-Mannosidosis: functional cloning of the lysosomal -mannosidase cDNA and identification of a mutation in two affected siblings (English)
- New search for: Nilssen, O.
- New search for: Berg, T.
- New search for: Riise, H. M. F.
- New search for: Ramachandran, U.
- New search for: Evjen, G.
- New search for: Hansen, G. M.
- New search for: Malm, D.
- New search for: Tranebjaerg, L.
- New search for: Tollersrud, O. K.
- New search for: Nilssen, O.
- New search for: Berg, T.
- New search for: Riise, H. M. F.
- New search for: Ramachandran, U.
- New search for: Evjen, G.
- New search for: Hansen, G. M.
- New search for: Malm, D.
- New search for: Tranebjaerg, L.
- New search for: Tollersrud, O. K.
In:
HUMAN MOLECULAR GENETICS
;
6
, 5
;
717-726
;
1997
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ISSN:
- Article (Journal) / Print
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Title:-Mannosidosis: functional cloning of the lysosomal -mannosidase cDNA and identification of a mutation in two affected siblings
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Contributors:Nilssen, O. ( author ) / Berg, T. ( author ) / Riise, H. M. F. ( author ) / Ramachandran, U. ( author ) / Evjen, G. ( author ) / Hansen, G. M. ( author ) / Malm, D. ( author ) / Tranebjaerg, L. ( author ) / Tollersrud, O. K. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 6, 5 ; 717-726
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Publisher:
- New search for: OXFORD UNIVERSITY PRESS
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Publication date:1997-01-01
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Size:10 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 6, Issue 5
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 651
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Characterisation of Expression of mDMAHP, a Homeodomain-Encoding Gene at the Murine DM LocusHeath, Stephanie K. / Carne, Simon / Hoyle, Christine / Johnson, Keith J. / Wells, Dominic J. et al. | 1997
- 659
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Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)Morell, R. / Spritz, R. A. / Ho, L. / Pierpont, J. / Guo, W. / Friedman, T. B. / Asher, J. H. et al. | 1997
- 665
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Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human {beta}-Crystallin Gene CRYBB2Litt, Michael / Carrero-Valenzuela, Roque / LaMorticella, Dante M. / Schultz, Dennis W. / Mitchell, Thomas N. / Kramer, Patricia / Maumenee, Irene H. et al. | 1997
- 665
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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human -crystallin gene CRYBB2Litt, M. / Carrero-Valenzuela, R. / LaMorticella, D. M. / Schultz, D. W. / Mitchell, T. N. / Kramer, P. / Maumenee, I. H. et al. | 1997
- 669
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Homozygous {alpha}6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal AtresiaPulkkinen, Leena / Kimonis, Virginia E. / Xu, Yili / Spanou, Elena N. / McLean, W. H. Irwin / Uitto, Jouni et al. | 1997
- 669
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Homozygous 6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaPulkkinen, L. / Kimonis, V. E. / Xu, Y. / Spanou, E. N. / McLean, W. H. I. / Uitto, J. et al. | 1997
- 675
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Structure and Sequence Variation at the Human Leptin Receptor Gene in Lean and Obese Pima IndiansBruce Thompson, D. / Ravussin, Eric / Bennett, Peter H. / Bogardus, Clifton et al. | 1997
- 681
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Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid FibroblastsNguyen, H. Bryant / Estacion, Mark / Gargus, J. Jay et al. | 1997
- 689
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Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA PoolingArbour, Nancy C. / Zlotogora, Joel / Knowlton, Robert G. / Merin, Saul / Rosenmann, Ada / Kanis, Adam B. / Rokhlina, Tatiana / Stone, Edwin M. / Sheffield, Val C. et al. | 1997
- 695
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The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?Andresen, Brage Storstein / Bross, Peter / Udvari, Szabolcs / Kirk, Jean / Gray, George / Kmoch, Stanislav / Chamoles, Nestor / Knudsen, Inga / Winter, Vibeke / Wilcken, Bridget et al. | 1997
- 709
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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 FamiliesCancel, Géraldine / Dürr, Alexandra / Didierjean, Olivier / Imbert, Georges / Bürk, Katrin / Lezin, Agnès / Belal, Samir / Benomar, Ali / Abada-Bendib, Myriem / Vial, Christophe et al. | 1997
- 717
-
{alpha}-Mannosidosis:Functional Cloning of the Lysosomal {alpha}-Mannosidase cDNA and Identification of a Mutation in Two Affected SiblingsNilssen, Øivind / Berg, Thomas / Riise, Hilde M. F. / Ramachandran, Umayal / Evjen, Gry / Hansen, Gaute M. / Malm, Dag / Tranebjaerg, Lisbeth / Tollersrud, Ole K. et al. | 1997
- 717
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-Mannosidosis: functional cloning of the lysosomal -mannosidase cDNA and identification of a mutation in two affected siblingsNilssen, O. / Berg, T. / Riise, H. M. F. / Ramachandran, U. / Evjen, G. / Hansen, G. M. / Malm, D. / Tranebjaerg, L. / Tollersrud, O. K. et al. | 1997
- 727
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Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1Dixon, Jill / Hovanes, Karine / Shiang, Rita / Dixon, Michael J. et al. | 1997
- 739
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Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3' Splice Acceptor Site Within an Exon of the Human Biotinidase GenePomponio, Robert J. / Reynolds, Thomas R. / Mandel, Hanna / Admoni, Osnat / Melone, Pamela D. / Buck, Gregory A. / Wolf, Barry et al. | 1997
- 747
-
Mild congenital muscular dystrophy in two patients with an internally deleted laminin 2-chainAllamand, V. / Sunada, Y. / Salih, M. A. M. / Straub, V. / Ozo, C. O. / Al-Turaiki, M. H. S. / Akbar, M. / Kolo, T. / Colognato, H. / Zhang, X. et al. | 1997
- 747
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Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin {alpha}2-ChainAllamand, Valérie / Sunada, Yoshihide / Salih, Mustafa A. M. / Straub, Volker / Ozo, O. / Al-Turaiki, M. H. S. / Akbar, Maksood / Kolo, Timo / Colognato, Holly / Zhang, Xu et al. | 1997
- 753
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Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor curly epsilon subunit gene: identification and functional characterization of six new mutationsOhno, K. / Quiram, P. A. / Milone, M. / Wang, H.-L. / Harper, M. C. / Pruitt, J. N. / Brengman, J. M. / Pao, L. / Fischbeck, K. H. / Crawford, T. O. et al. | 1997
- 753
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Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor {varepsilon} Subunit Gene: Identification and Functional Characterization of Six New MutationsOhno, Kinji / Quiram, Polly A. / Milone, Margherita / Wang, Hai-Long / Harper, Michel C. / Ned Pruitt, J. / Brengman, Joan M. / Pao, Linda / Fischbeck, Kenneth H. / Crawford, Thomas O. et al. | 1997
- 767
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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor {alpha} Subunit in Patients with the Slow-Channel congenital Myasthenic SyndromeCroxen, Rebecca / Newland, Claire / Beeson, David / Oosterhuis, Hans / Chauplannaz, Guy / Vincent, Angela / Newsom-Davis, John et al. | 1997
- 767
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Mutations in different functional domains of the human muscle acetylcholine receptor subunit in patients with the slow-channel congenital myasthenic syndromeCroxen, R. / Newland, C. / Beeson, D. / Oosterhuis, H. / Chauplannaz, G. / Vincent, A. / Newsom-Davis, J. et al. | 1997
- 775
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Reduced Penetrance of the Huntington's Disease MutationMcNeil, Sandra M. / Novelletto, Andrea / Srinidhi, Jayalakshmi / Barnes, Glenn / Kornbluth, Ira / Altherr, Michael R. / Wasmuth, John J. / Gusella, James F. / MacDonald, Marcy E. / Myers, Richard H. et al. | 1997
- 781
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Human PEG1/MEST, an Imprinted Gene on Chromosome 7Kobayashi, Shin / Kohda, Takashi / Miyoshi, Naoki / Kuroiwa, Yoshimi / Aisaka, Kohzo / Tsutsumi, Osamu / Kaneko-Ishino, Tomoko / Ishino, Fumitoshi et al. | 1997
- 787
-
Molecular Defects in Sanfilippo Syndrome Type ABlanch, Lianne / Weber, Birgit / Guo, Xiao-Hui / Scott, Hamish S. / Hopwood, John J. et al. | 1997
- 793
-
Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare 'AT-AC' IntronFeng, Guo Hong / Bailin, Tu / Oh, Jangsuk / Spritz, Richard A. et al. | 1997
- 799
-
Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting PedigreesHeyer, Evelyne / Puymirat, Jack / Dieltjes, Patrick / Bakker, Egbert / de Knijff, Peter et al. | 1997
- 805
-
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutationsWollnik, B. / Kubisch, C. / Steinmeyer, K. / Pusch, M. et al. | 1997
- 805
-
Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic MutationsWollnik, Bernd / Kubisch, Christian / Steinmeyer, Klaus / Pusch, Michael et al. | 1997
- 813
-
Identification of a Major Susceptibility Locus on Chromosome 6p and Evidence for Further Disease Loci Revealed by a Two Stage Genome-Wide Search in PsoriasisTrembath, Richard C. / Lee Clough, R. / Rosbotham, Jane L. / Jones, Andrew B. / Camp, Richard D. R. / Frodsham, Angela / Browne, Julie / Barber, Ruth / Terwilliger, Joseph / Mark Lathrop, G. et al. | 1997
- 821
-
Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)Hahnen, Eric / Schönling, Jutta / Rudnik-Schöneborn, Sabine / Raschke, Heidrun / Zerres, Klaus / Wirth, Brunhilde et al. | 1997
- 828
-
Analysis of Molecular Variance (AMOVA) of Y--Chromosome--Specific Microsatellites in Two Closely Related Human PopulationsRoewer, L. / Kayser, M. / Dieltjes, P. / Nagy, M. / Bakker, E. / Krawczak, M. / de Knijff, P. et al. | 1997
- 829
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The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a geneCecchi, C / Biasotto, M / Tosi, M / Avner, P et al. | 1997