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Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease

Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers...

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Библиографические подробности
Главные авторы: Simonaro, Calogera M., Park, Jae-Ho, Eliyahu, Efrat, Shtraizent, Nataly, McGovern, Margaret M., Schuchman, Edward H.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2006
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1474038/
https://ncbi.nlm.nih.gov/pubmed/16642440
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