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Rare disease
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

Authors

  1. Correspondence to Dr Vishal Sondhi, dr.sondhi{at}yahoo.co.in
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Citation

Aneja A, Sharma A, Dalal A, et al
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
Case Reports 2012;2012:bcr2012006959.

Publication history

  • First published November 27, 2012.
Online issue publication 
August 07, 2018

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2012 BMJ Publishing Group Ltd