Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

Item
http://www.wikidata.org/entity/Q28189579
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse modelsThe p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseFunctional implications of novel human acid sphingomyelinase splice variantsMolecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type AIdentification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase.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

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

Item
http://www.wikidata.org/entity/Q28189579
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Identification and expression ...... Niemann-Pick disease patients
@ast
Identification and expression ...... Niemann-Pick disease patients
@en
Identification and expression ...... Niemann-Pick disease patients
@nl
type
label
Identification and expression ...... Niemann-Pick disease patients
@ast
Identification and expression ...... Niemann-Pick disease patients
@en
Identification and expression ...... Niemann-Pick disease patients
@nl
prefLabel
Identification and expression ...... Niemann-Pick disease patients
@ast
Identification and expression ...... Niemann-Pick disease patients
@en
Identification and expression ...... Niemann-Pick disease patients
@nl
P1433
P1476
P2093
P304
P31
P407
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P478
P577
P698
P1433
P1476
Identification and expression ...... Niemann-Pick disease patients
@en
P2093
P304
P31
P407
P433
P478
P577
P698