Literature DB >> 598759

[Type A Niemann-Pick disease in a female Arab infant].

I Zelikovic, M Nitzan, D Zitman, C Klibansky.   

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Year:  1977        PMID： 598759

Source DB:  PubMed          Journal:  Harefuah        ISSN： 0017-7768


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  1 in total

1.  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.

Authors:  Abedelmajeed Nasereddin; Suheir Ereqat
Journal:  J Med Case Rep       Date:  2018-09-18
  1 in total

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