The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Ramano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC. Nature Genet 1993;5:344–350

Hepatology ◽  
1994 ◽  
Vol 20 (2) ◽  
pp. 529-530
Keyword(s):  
Wilson Disease ◽  
Disease Gene ◽  
Menkes Disease

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1993 ◽  
Vol 5 (4) ◽  
pp. 344-350 ◽  
Author(s):  
R.E. Tanzi ◽  
K. Petrukhin ◽  
I. Chernov ◽  
J.L. Pellequer ◽  
W. Wasco ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Disease Gene ◽  
Menkes Disease

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

Copper Transport Disorders: Wilson Disease and Menkes Disease

2000 ◽  
pp. 384-391
Author(s):  
Diane W. Cox ◽  
Zeynep Tümer ◽  
Eve A. Roberts
Keyword(s):  
Wilson Disease ◽  
Menkes Disease ◽  
Copper Transport

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

The mottled gene is the mouse homologue of the Menkes disease gene

1994 ◽  
Vol 6 (4) ◽  
pp. 369-373 ◽  
Author(s):  
Barbara Levinson ◽  
Christopher Vulpe ◽  
Bruce Elder ◽  
Christopher Martin ◽  
Frank Verley ◽  
...  
Keyword(s):  
Disease Gene ◽  
Menkes Disease ◽  
Mouse Homologue

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

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

2005 ◽  
Vol 68 (5) ◽  
pp. 474-476 ◽  
Author(s):  
T Todorov ◽  
A Savov ◽  
H Jelev ◽  
E Panteleeva ◽  
D Konstantinova ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Disease Gene ◽  
Bulgarian Population
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