酸性鞘磷脂酶基因中的两个新突变导致A型尼曼-匹克病：N389T和R441X。 - Suppr

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超能文献

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

作者信息

Schuchman E H

机构信息

Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.

出版信息

Hum Mutat. 1995;6(4):352-4. doi: 10.1002/humu.1380060412.

DOI:10.1002/humu.1380060412

PMID:8680412

Abstract

摘要

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Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.酸性鞘磷脂酶基因中的两个新突变导致A型尼曼-匹克病：N389T和R441X。

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