Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

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题目: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency
作者: Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen K.V. Reichardt, Bruno Dallapiccola
发表年份: 1996
期刊 / 来源: Human Mutation
出版社: Wiley
DOI: 10.1002/(sici)1098-1004(1996)8:4<369::aid-humu12>3.0.co;2-0
文献类型: 学术文献
平台记录更新: 2026-09-20 09:12:18

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