Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Types A and B Niemann-Pick disease: acid sphingomyelinase deficiencies;Schuchman,2001
2. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4;da Veiga Pereira;Genomics,1991
3. Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol;Lee;Hum Genet,2003
4. Acid sphingomyelinase deficiency in Beckwith-Weidemann syndrome;Réthy;Pathol Oncol Res,2000
5. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome;Cooper;Eur J Hum Genet,2005
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