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Mutations in humans and animals which affect copper metabolism
Author(s) -
Camakaris J.,
Phillips M.,
Danks D. M.,
Brown R.,
Stevenson T.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01811323
Subject(s) - menkes disease , copper metabolism , mutant , biology , human genetics , metabolism , genetics , metabolic disease , mutation , copper , bioinformatics , biochemistry , endocrinology , chemistry , gene , organic chemistry
Various inherited disorders of copper metabolism in man and animals are reviewed. Emphasis is placed on the use of cultured cells from mutants to determine the primary molecular defects and to acquire basic knowledge of normal copper metabolism. This allows better diagnostic tests and possible treatment of the disorders. Menkes' disease in humans and mottled mouse mutants are discussed in detail, as they illustrate these approaches.