Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1) (English)
- New search for: Toda, Tatsushi
- New search for: llda, Aritoshi
- New search for: Mlwa, Tokiko
- New search for: Nakamura, Yusuke
- New search for: Imal, Takashi
- New search for: Toda, Tatsushi
- New search for: llda, Aritoshi
- New search for: Mlwa, Tokiko
- New search for: Nakamura, Yusuke
- New search for: Imal, Takashi
In:
Human molecular genetics
;
3
, 3
;
465-
;
1994
- Article (Journal) / Electronic Resource
-
Title:Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1)
-
Contributors:Toda, Tatsushi ( author ) / llda, Aritoshi ( author ) / Mlwa, Tokiko ( author ) / Nakamura, Yusuke ( author ) / Imal, Takashi ( author )
-
Published in:Human molecular genetics ; 3, 3 ; 465-
-
Publisher:
- New search for: Oxford University Press
-
Publication date:1994-03-01
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Source:
Table of contents – Volume 3, Issue 3
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.
- 393
-
Frequency and stability of the fragile X premutationReiss, Allan L. / Kazazian, Haig H. / Krebs, Claudia M. / McAughan, Audrey / Boehm, Corinne D. / Abrams, Michael T. / Nelson, David L. et al. | 1994
- 399
-
Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutationMacpherson, James N. / Bullman, Hilary / Youings, Sheila A. / Jacobs, Patricia A. et al. | 1994
- 407
-
The murine NF2 homologue encodes a highly conserved merlin protein with alternative formsHaase, Volker H. / Trofatter, James A. / MacCollin, Mla / Tarttelln, Emma / Gusella, James F. / Ramesh, Vijaya et al. | 1994
- 413
-
Exon scanning for mutation of the NF2 gene in schwannomasJacoby, Lee B. / MacCollin, Mia / Louls, David N. / Mohney, Trina / Rublo, Mari-Paz / Pulaski, Karen / Trofatter, James A. / Kley, Nikolai / Seizinger, Bernd / Ramesh, Vijaya et al. | 1994
- 421
-
Human microsomal epoxide hydrolase: genetic poloymorphism and functional expression in vitro of amino acid variantsHassett, Christopher / Alcher, Lauri / Sidhu, Jaspreet S. / Omieclnskl, Curtls J. et al. | 1994
- 429
-
Mutations and polymorphisms of the gene encoding the {beta}-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type IIColombo, Irma / Finocchlaro, Gaetano / Garavaglia, Barbara / Garbugllo, Nicoletta / Yamaguchl, S. / Frerman, F.E. / Berra, Bruno / DiDonato, Stefano et al. | 1994
- 437
-
Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26 - 27)Magnaghi, P. / Citterio, E. / Malgarettl, N. / Acquati, F. / Ottolenghi, S. / Taramelli, R. et al. | 1994
- 443
-
Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancerCurtis, Lucy J. / Bubb, Vivien J. / Gledhlll, Sarah / Morris, Robert G. / Bird, Colin C. / Wyllle, Andrew H. et al. | 1994
- 447
-
Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patientsBonifas, J. M. / Bare, J. W. / Kerschmann, R. L. / Master, S. P. / Epstein, E. H. et al. | 1994
- 449
-
Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243Petruzzella, Vittorla / Moraes, Carlos T. / Sano, Mary C. / Bonilla, S Eduardo / DiMauro, Salvatore / Schon, Eric A. et al. | 1994
- 455
-
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2pBashlr, Rumaisa / Strachan, Tom / Keers, Sharon / Stephenson, Anthea / Mahjneh, Ibrahim / Marconi, Giamplero / Nashef, Lina / Bushby, Kate M. D. et al. | 1994
- 459
-
Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French -- Canadian populationSimard, Louise R. / Prescott, Gary / Rochette, Camille / Morgan, Kenneth / Lemleux, Bernard / Mathleu, Jean / Melançon, Serge B. / Vanasse, Michel et al. | 1994
- 465
-
Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1)Toda, Tatsushi / llda, Aritoshi / Mlwa, Tokiko / Nakamura, Yusuke / Imal, Takashi et al. | 1994
- 471
-
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studiesQuane, Kathleen A. / Keating, Katherine E. / Manning, Bernadette M. / Healy, J.M.Sandra / Monsleurs, Koen / Heffron, James J.A. / Lehane, Mary / Heytens, Luc / Krivosic-Horber, Renee / Adnet, Pascal et al. | 1994
- 477
-
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphismsMartasek, Pavel / Nordmann, Yves / Grandchamp, Bernard et al. | 1994
- 481
-
Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complexSargent, Carole A. / Anderson, Michael J. / Hsieh, Shie-Liang / Kendall, Elaine / Gomez-Escobar, Natalia / Campbell, R.Duncan et al. | 1994
- 489
-
Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markersGreen, Eric D. / ldol, Jacquelyn R. / Mohr-Tldwell, Rose M. / Braden, Valerie V. / Peluso, Dale C. / Fulton, Robert S. / Massa, Hillary F. / Magness, Charles L. / Wllson, Alllson M. / Kimura, Joe et al. | 1994
- 503
-
Six novel mutations in the {alpha}-galactosidase A gene in families with Fabry diseaseAmstel, J.K. Ploos van / Jansen, R.P. M. / de Jong, J.G.N. / Hamel, B.C.J. / Wevers, R.A. et al. | 1994
- 507
-
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasiaDharmavaram, Rita M. / Elberson, Margaret A. / Peng, Minzhong / Kirson, Lisa A. / Kelley, Thaddeus E. / Jimenez, Sergio A. et al. | 1994
- 511
-
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IVMadhatheri, Swama L. / Tromp, Gerard / Gustavson, Karl-Henrik / Kulvanlemi, Helena et al. | 1994
- 513
-
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patientSavov, Alexey / Jordanova, Albena / Gavrilov, Dimitar / Angelicheva, Dora / Kalaydjieva, Luba et al. | 1994
- 515
-
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot--Marie-- Tooth disease type 1Nells, Eva / Timmerman, Vincent / De Jonghe, Peter / Van Broeckhoven, Christine et al. | 1994
- 517
-
An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 geneBleyl, Steven / Ainsworth, Peter / Nelson, Lesa / Viskochil, Dave / Ward, Kenneth et al. | 1994
- 519
-
Seven chromosome 22 STR polymorphismsPorter, Joanne C. / Puck, Jenniter M. et al. | 1994
- 520
-
Dinucleotide repeat polymorphism in the VHL regionLoeb, Deborah / Lui, Wango / Smith, David I. / Vance, Jeffery M. et al. | 1994
- 520-a
-
Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)Lin, Margaret J. / Parsia, Sam S. / Papolos, Demitri F. / Lachman, Herbert M. et al. | 1994
- 521
-
CGG triple repeat polymorphism in VLDL receptor (VLDL-R) geneJokinen, Eero / Sakai, Juro / Yamamoto, Tokuo / Hobbs, Helen H. et al. | 1994
- 521-a
-
Tetranucleotide repeat polymorphism in RAF1Mao, Li / Sidransky, David et al. | 1994
- 522
-
Bg/ll polymorphism in the UNG gene in 4 populationsSkorpen, Frank / Krokan, Hans E. et al. | 1994
- 522a
-
BglII polymorphism in the UNG gene in 4 populationsSkorpen, F / Krokan, HE et al. | 1994
- 522-a
-
A CA repeat polymorphism at D11S1383Saris, J. J. / Vossen, R.H.A.M. / Bakker, E. et al. | 1994
- 523
-
Two dinucleotide repeat polymorphisms at the DMD locusKing, S.C. / Stapleton, P.M. / Walker, A.P. / Love, D.R. et al. | 1994
- 523a
-
Trinucleotide repeat polymorphism at the PKLR locusLenzner, C / Jacobasch, G / Reis, A / Thiele, B / Nurnberg, P et al. | 1994
- 525
-
New human DNA polymorphisms submitted to the genome data base| 1994
- 529
-
Author index| 1994
- 530
-
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencingSavov, A. / Mercier, B. / Kalaydjieva, L. / Férec, C. et al. | 1994
- 530-a
-
Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeatLin, B. / Nasir, J. / MacDonald, H. / Hutchinson, G. / Graham, R.K. / Rommens, J.M. / Hayden, M.R. et al. | 1994