scholarly journals Physiologic function of the Wilson disease gene product, ATP7B

1998 ◽  
Vol 67 (5) ◽  
pp. 982S-987S ◽  
Author(s):  
M J Bingham ◽  
T J Ong ◽  
K H Summer ◽  
R B Middleton ◽  
H J McArdle
Keyword(s):  
Gene Product ◽  
Wilson Disease ◽  
Disease Gene ◽  
Physiologic Function

scholarly journals Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

Hepatology ◽  
2010 ◽  
Vol 52 (5) ◽  
pp. 1662-1670 ◽  
Author(s):  
Lei Wan ◽  
Chang-Hai Tsai ◽  
Chin-Moo Hsu ◽  
Chin-Chang Huang ◽  
Chih-Chao Yang ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Mutation Analysis ◽  
Wilson Disease ◽  
Disease Gene ◽  
Splice Variants ◽  
Alternative Splice Variants

Machado–Joseph Disease Gene Product Identified in Lymphocytes and Brain

1997 ◽  
Vol 233 (2) ◽  
pp. 476-479 ◽  
Author(s):  
Guanghui Wang ◽  
Keiko Ide ◽  
Nobuyuki Nukina ◽  
Jun Goto ◽  
Yaeko Ichikawa ◽  
...  
Keyword(s):  
Gene Product ◽  
Disease Gene ◽  
Machado Joseph Disease

scholarly journals Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

2000 ◽  
Vol 8 (12) ◽  
pp. 933-938 ◽  
Author(s):  
Charlotta Olsson ◽  
Erik Waldenström ◽  
Kerstin Westermark ◽  
Ulf Landegren ◽  
Ann-Christine Syvänen
Keyword(s):  
Wilson Disease ◽  
Disease Gene ◽  
Allelic Variants ◽  
Pooled Dna

scholarly journals High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study

Hepatology ◽  
2000 ◽  
Vol 32 (6) ◽  
pp. 1329-1336 ◽  
Author(s):  
Luis García-Villarreal ◽  
Susan Daniels ◽  
Sarah H. Shaw ◽  
David Cotton ◽  
Margaret Galvin ◽  
...  
Keyword(s):  
Clinical Study ◽  
Gene Mutation ◽  
Canary Islands ◽  
Wilson Disease ◽  
Disease Gene ◽  
Gran Canaria ◽  
High Prevalence

Mapping of the Mouse Homologue of the Wilson Disease Gene to Mouse Chromosome 8

Genomics ◽  
1995 ◽  
Vol 28 (3) ◽  
pp. 573-575 ◽  
Author(s):  
Vivienne Reed ◽  
Penny Williamson ◽  
Peter C. Bull ◽  
Diane W. Cox ◽  
Yvonne Boyd
Keyword(s):  
Mouse Chromosome ◽  
Wilson Disease ◽  
Disease Gene ◽  
Chromosome 8 ◽  
Mouse Homologue ◽  
Mouse Chromosome 8

Expression of SPCA1 (Hailey–Hailey disease gene product) in acantholytic dermatoses

2005 ◽  
Vol 40 (2) ◽  
pp. 137-140 ◽  
Author(s):  
S PORGPERMDEE ◽  
X YU ◽  
A TAKAGI ◽  
N MAYUZUMI ◽  
H OGAWA ◽  
...  
Keyword(s):  
Gene Product ◽  
Disease Gene
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