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Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasm...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Proc Natl Acad Sci U S A
Prif Awduron: Frydman, M, Bonné-Tamir, B, Farrer, L A, Conneally, P M, Magazanik, A, Ashbel, S, Goldwitch, Z
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 1985
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC397364/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3856863/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.82.6.1819
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