High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

Author:

Chuang L M,Wu H P,Jang M H,Wang T R,Sue W C,Lin B J,Cox D W,Tai T Y

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Disorders of copper transport;Danks, D.M.,1989

2. Assignment of the gene for Wilson disease to chromosome 13: linkage to the;Frydman, M.; Bonne-Tamir, B.; Farrer, L.A.,1985

3. Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method;Bonne-Tamir, B.; Farrer, L.A.; Frydman, M.; Kanaaeh, H.;Genet Epidemiol,1986

4. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5-1 centimorgans;Bowcock, A.M.; Farrer, L.A.; Hebert, J.M.; Bale, A.E.; CavalliSforza, L.L.;Genomics; codon 778 in exon 8 of the A TP7B gene in Taiwanese families; High frequency of two mutations,1991

5. Allelic association and linkage studies in Wilson disease;Thomas, G.R.; Roberts, E.Z.; Rosales, T.O.;Hum Molec Genet,1993

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