在日本着色性干皮病互补基因A的产前诊断
题名: 在日本着色性干皮病互补基因A的产前诊断
摘要: We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XPA) families. All parents had at least one XPA child (proband) with a homozygous founder mutation (IVS31G>C) in the XPA g...

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