Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
about
Mitochondrial dysfunction associated with glucocerebrosidase deficiencyGBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis.Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher diseaseThe glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.Type 2 Gaucher disease: the collodion baby phenotype revisited.Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).No evidence for substrate accumulation in Parkinson brains with GBA mutations.The E326K mutation and Gaucher disease: mutation or polymorphism?
P2860
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P2860
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@ast
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@en
type
label
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@ast
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@en
prefLabel
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@ast
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@en
P2093
P2860
P356
P1476
Non-pseudogene-derived complex ...... severe type 2 gaucher disease.
@en
P2093
G M Pastores
P Ashton-Prolla
R J Desnick
P2860
P304
P356
10.1172/JCI5168
P407
P577
1999-03-01T00:00:00Z