scholarly journals Correction: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study

2021 ◽  
Author(s):  
Harald Hofer ◽  
Claudia Willheim-Polli ◽  
Peter Knoflach ◽  
Christian Gabriel ◽  
Wolfgang Vogel ◽  
...  
Keyword(s):  
Clinical Study ◽  
Gene Mutation ◽  
Wilson Disease ◽  
Disease Gene ◽  
Upper Austria

scholarly journals Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study

2012 ◽  
Vol 57 (9) ◽  
pp. 564-567 ◽  
Author(s):  
Harald Hofer ◽  
Claudia Willheim-Polli ◽  
Peter Knoflach ◽  
Christian Gabriel ◽  
Wolfgang Vogel ◽  
...  
Keyword(s):  
Clinical Study ◽  
Gene Mutation ◽  
Wilson Disease ◽  
Disease Gene ◽  
Upper Austria

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

658 Identification of a novel mutation in wilson disease patients from upper-austria: A genetic and clinical study

2006 ◽  
Vol 44 ◽  
pp. S243
Author(s):  
H. Hofer ◽  
C. Willheim-Polli ◽  
E. Hackl ◽  
P. Knoflach ◽  
C. Gabriel ◽  
...  
Keyword(s):  
Clinical Study ◽  
Wilson Disease ◽  
Novel Mutation ◽  
Upper Austria

Identification of a novel mutation in Wilson disease patients from upper-Austria: A genetic and clinical study

2008 ◽  
Vol 46 (06) ◽  
Author(s):  
H Hofer ◽  
C Willheim-Polli ◽  
F Hackl ◽  
P Knoflach ◽  
C Gabriel ◽  
...  
Keyword(s):  
Clinical Study ◽  
Wilson Disease ◽  
Novel Mutation ◽  
Upper Austria

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

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

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

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
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