[Type A Niemann-Pick disease in a female Arab infant].
作者信息
Zelikovic I, Nitzan M, Zitman D, Klibansky C
出版信息
Harefuah. 1977 Nov 1;93(9):239-42.
PMID:598759
Abstract
摘要
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Harefuah. 1977 Nov 1;93(9):239-42.
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引用本文的文献
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Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.对一名患有A型尼曼-匹克病的巴勒斯坦婴儿的SMPD1基因进行深度测序，发现了一个杂合移码突变（p.Ser192Alafs）：病例报告。
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