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词汇 Adenine phosphoribosyltransferase deficiency
分类 英语词汇 英语翻译词典
释义

Adenine phosphoribosyltransferase deficiency

英语百科

Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.

Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.

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