A型尼曼-匹克病：酸性鞘磷脂酶基因中的移码突变（fsP330）发生在德系犹太患者中。 - Suppr

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超能文献

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

作者信息

Levran O, Desnick R J, Schuchman E H

机构信息

Mount Sinai School of Medicine, New York, New York 10029.

出版信息

Hum Mutat. 1993;2(4):317-9. doi: 10.1002/humu.1380020414.

DOI:10.1002/humu.1380020414

PMID:8401540

Abstract

摘要

相似文献

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.A型尼曼-匹克病：酸性鞘磷脂酶基因中的移码突变（fsP330）发生在德系犹太患者中。

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Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.尼曼-匹克病：德系犹太裔A 型和B 型患者酸性鞘磷脂酶基因中常见的错义突变。

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