Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Item
http://www.wikidata.org/entity/Q34658061
Multi-system disorders of glycosphingolipid and ganglioside metabolismThe unconventional role of acid sphingomyelinase in regulation of retinal microangiopathy in diabetic human and animal models.R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.Gamma-Normal-Gamma mixture model for detecting differentially methylated loci in three breast cancer cell linesRoles and regulation of secretory and lysosomal acid sphingomyelinase.Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report.Types A and B Niemann-Pick disease.Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report
P2860

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Item
http://www.wikidata.org/entity/Q34658061
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@ast
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@en
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@nl
type
label
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@ast
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@en
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@nl
prefLabel
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@ast
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@en
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@nl
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P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
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P1433
P1476
Imprinting at the SMPD1 locus: ...... eficient Niemann-Pick disease.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932