Identification and characterization ofSMPD1mutations causing Niemann-Pick types A and B in Spanish patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
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3. The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B;Fernández-Burriel;Clin Genet,2003
4. Characterization of human acid shingomyelinase purified from the media overexpressing Chinese hamster ovary cells;He;Biochim Biophys Acta,1999
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