טוען...
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...
שמור ב:
| Main Authors: | , , , , , |
|---|---|
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
The American Society of Human Genetics
2006
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1474038/ https://ncbi.nlm.nih.gov/pubmed/16642440 |
| תגים: |
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