Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease (English)
- New search for: Takahashi, Y.
- New search for: Miyajima, H.
- New search for: Shirabe, S.
- New search for: Nagataki, S.
- New search for: Suenaga, A.
- New search for: Gitlin, J. D.
- New search for: Takahashi, Y.
- New search for: Miyajima, H.
- New search for: Shirabe, S.
- New search for: Nagataki, S.
- New search for: Suenaga, A.
- New search for: Gitlin, J. D.
In:
HUMAN MOLECULAR GENETICS
;
5
, 1
;
81-84
;
1996
-
ISSN:
- Article (Journal) / Print
-
Title:Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
-
Contributors:Takahashi, Y. ( author ) / Miyajima, H. ( author ) / Shirabe, S. ( author ) / Nagataki, S. ( author ) / Suenaga, A. ( author ) / Gitlin, J. D. ( author )
-
Published in:HUMAN MOLECULAR GENETICS ; 5, 1 ; 81-84
-
Publisher:
- New search for: OXFORD UNIVERSITY PRESS
-
Publication date:1996-01-01
-
Size:4 pages
-
ISSN:
-
Type of media:Article (Journal)
-
Type of material:Print
-
Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
-
Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 5, Issue 1
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.
- 1
-
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff DiseasesPhaneuf, Daniel / Wakamatsu, Nobuaki / Huang, Jing-Qi / Borowski, Anita / Peterson, Alan C. / Fortunato, Sheila R. / Ritter, Gerd / Igdoura, Suleiman A. / Morales, Carlos R. / Benoit, Guylaine et al. | 1996
- 15
-
In Vivo Amplification of the PAX3-FKHR and PAX7-FKHR Fusion Genes in Alveolar RhabdomyosarcomaBarr, Frederic G. / Nauta, Lauren E. / Davis, Richard J. / Schafer, Beat W. / Nycum, Lynn M. / Biegel, Jaclyn A. et al. | 1996
- 23
-
Human Pseudoautosomal Boundary-like Sequences: Expression and Involvement in Evolutionary Formation of the Present-day Pseudoautosomal Boundary of Human Sex ChromosomesFukagawa, Tatsuo / Nakamura, Yasukazu / Okumura, Katsuzumi / Nogami, Masahiro / Ando, Asako / Inoko, Hidetoshi / Saitou, Naruya / Ikemura, Toshimichi et al. | 1996
- 23
-
Human pseudoautosomai boundary-like sequences: expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomesFukagawa, T. / Nakamura, Y. / Okumura, K. / Nogami, M. / Ando, A. / Inoko, H. / Saitou, N. / Ikemura, T. et al. | 1996
- 33
-
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)Banfi, S. / Servadio, A. / Chung, M.-Y. / Capozzoli, F. / Duvick, L. A. / Elde, R. / Zoghbi, H. Y. / Orr, H. T. et al. | 1996
- 33
-
Cloning and Developmental Expression Analysis of the Murine Homolog of the Spinocerebellar Ataxia Type 1 Gene (Sea1)Banfi, Sandro / Servadio, Antonio / Chung, Ming-yi / Capozzoli, Fiorentino / Duvick, Lisa A. / Elde, Robert / Zoghbi, Huda Y. / Orr, Harry T. et al. | 1996
- 41
-
Cloning and Characterization of a Murine Brain Specific Gene Bpx and Its Human Homologue Lying within the Xic Candidate RegionRougeulle, Claire / Avner, Philip et al. | 1996
- 51
-
An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd GeneBerger, Wolfgang / van de Pol, Dorien / Bächner, Dietmar / Oerlemans, Frank / Winkens, Huub / Hameister, Horst / Wieringa, Bé / Hendriks, Wiljan / Ropers, Hans-Hilger et al. | 1996
- 61
-
Structural Analysis of the Minisatellite Present at the 3' end of the Human Apolipoprotein B Gene: New Definition of the Alleles and Evolutionary ImplicationsBuresi, Catherine / Desmarais, Eric / Vigneron, Suzanne / Lamarti, Hatim / Smaoui, Nizar / Cambien, François / Roizes, Gérard et al. | 1996
- 69
-
Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex ReversalNinomiya, Shinsuke / Isomura, Minoru / Narahara, Kouji / Seino, Yoshiki / Nakamura, Yusuke et al. | 1996
- 73
-
A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated CardiomyopathyMilasin, Jelena / Muntoni, Francesco / Maria Severini, Giovanni / Bartoloni, Lucia / Vatta, Matteo / Krajinovic, Maja / Mateddu, Anna / Angelini, Corrado / Camerini, Fulvio / Falaschi, Arturo et al. | 1996
- 81
-
Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative DiseaseTakahashi, Yoshitomo / Miyajima, Hiroaki / Shirabe, Susumu / Nagataki, Shigenobu / Suenaga, Akihito / Gitlin, Jonathan D. et al. | 1996
- 85
-
Developmental Expression of the Fac Gene Correlates with Congenital Defects in Fanconi Anemia PatientsKrasnoshtein, Flora / Buchwald, Manuel et al. | 1996
- 95
-
Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein IsoformsSittler, Annie / Devys, Didier / Weber, Chantal / Mandel, Jean-Louis et al. | 1996
- 103
-
A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?LeGuern, Eric / Gouider, Riadh / Ravisé, Nicole / Lopes, Judith / Tardieu, Sandrine / Gugenheim, Michel / Abbas, Nacer / Bouche, Pierre / Agid, Yves / Brice, Alexis et al. | 1996
- 107
-
Bi-directional Dideoxy Fingerprinting (Bi-ddF): A Rapid Method for Quantitative Detection of Mutations in Genomic Regions of 300-600 bpLiu, Qiang / Feng, Jinong / Sommer, Steve S. et al. | 1996
- 115
-
Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic DystrophyTimchenko, L. T. / Timchenko, N. A. / Caskey, C. T. / Roberts, R. et al. | 1996
- 123
-
Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell CybridsDunbar, D. R. / Moonie, P. A. / Zeviani, M. / Holt, I. J. et al. | 1996
- 131
-
Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and PufferfishMaheshwar, Magitha M. / Sandford, Richard / Nellist, Mark / Cheadle, Jeremy P. / Sgotto, Barbara / Vaudin, Mark / Sampson, Julian R. et al. | 1996
- 139
-
Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb RegionHu, Ling-Jia / Laporte, Jocelyn / Kress, Wolfram / Kioschis, Petra / Siebenhaar, Renate / Poustka, Annemarie / Fardeau, Michel / Metzenberg, Aida / Janssen, Emiel A. / Thomas, Nick et al. | 1996
- 145
-
Mutations Revealed by Sequencing the 5' Half of the Gene for Ataxia TelangiectasiaByrd, P. J. / McConville, C. M. / Cooper, P. / Parkhill, J. / Stankovic, T. / McGuire, G. M. / Thick, J. A. / Taylor, A. M. R. et al. | 1996
- 151
-
Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21Wijker, Mario / Wszolek, Zbigniew K. / Wolters, Eric C. H. / Rooimans, Martin A. / Pals, Gerard / Pfeiffer, Ronald F. / Lynch, Timothy / Rodnitzky, R. L. / Wilhelmsen, Kirk C. / Arwert, Fré et al. | 1996
- 155
-
A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23Chaïb, Hassan / Place, Christophe / Salem, Nabiha / Chardenoux, Sébastien / Vincent, Christophe / Weissenbach, Jean / El-Zir, Elie / Loiselet, Jacques / Petit, Christine et al. | 1996
- 159
-
Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1Mitrani-Rosenbaum, Stella / Argov, Zohar / Blumenfeld, Anat / Seidman, Christine E. / Seidman, J. G. et al. | 1996
- 165
-
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineons kindred from PakistanVeske, A. / Oehlmann, R. / Younus, F. / Mohyuddin, A. / Mueller-Myhsok, B. / Mehdi, S. Q. / Gal, A. et al. | 1996
- 165
-
Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from PakistanVeske, Andres / Oehlmann, Ralph / Younus, Farah / Mohyuddin, Aisha / Müller-Myhsok, Bertram / Qasim Mehdi, S. / Gal, Andreas et al. | 1996
- 169
-
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Kirpur region of Pakistan maps DFNB1 centromeric to D13S175Brown, K. A. / Janjua, A. H. / Karbani, G. / Parry, G. / Noble, A. / Crockford, G. / Bishop, D. T. / Newton, V. E. / Markham, A. F. / Mueller, R. F. et al. | 1996
- 169
-
Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175Brown, K. A. / Janjua, A. H. / Karbani, G. / Parry, G. / Noble, A. / Crockford, G. / Bishop, D. T. / Newton, V. E. / Markham, A. F. / Mueller, R. F. et al. | 1996