1871-89-2

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Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

Arnab Gupta et al.

Clinical chemistry, 53(9), 1601-1608 (2007-07-20)

Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu(2+) transporting, beta-polypeptide gene (ATP7B) resulting in accumulation of copper in liver and brain. WD can be thwarted if detected at a presymptomatic stage, but occasional

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