Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 167A; no. 11; pp. 2858 - 2860
Main Authors:	Aggarwal, Shagun, Jain, S. Jamal Mohamed Nurul, Bhowmik, Aneek D., Tandon, Ashwani, Dalal, Ashwin
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01-11-2015 Wiley Subscription Services, Inc
Subjects:	Autopsy Base Sequence DNA Mutational Analysis Fetus - abnormalities Gaucher disease Gaucher Disease - complications Gaucher Disease - genetics Glucosylceramidase - genetics Humans ichthyosis Ichthyosis - complications Ichthyosis - genetics Molecular Sequence Data Parents Phenotype pseudogene recombinant alleles Recombinant Proteins - genetics Gaucher disease pseudogene ichthyosis recombinant alleles
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Bibliography:	ark:/67375/WNG-C8LXC12H-J istex:542021E3D27ADA5AADA2A1674437EA2C1342B9BF ArticleID:AJMGA37251
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.37251