Mutation analysis of mottled mice
نویسندگان
چکیده
منابع مشابه
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and phenotype, are caused by mutations in Atp7a, the mouse homologue of ATP7A. As the only causal mutation in Atp7a has been reported in ...
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Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical role in the maintenance of copper homeostasis in cells of the whole body. ATP7A participates in co...
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ژورنال
عنوان ژورنال: Genetical Research
سال: 1998
ISSN: 0016-6723,1469-5073
DOI: 10.1017/s0016672398283303