Sequence variations in the first exon of alpha-galactosidase A.

Sequence variations in the first exon of alpha-galactosidase A.

Item
http://www.wikidata.org/entity/Q33595678
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidaseIdentification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Genetic screening of Fabry patients with EcoTILLING and HRM technology.A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case reportIncreased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type SpecificFabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Fabry's disease: an example of cardiorenal syndrome type 5.Genomic structure of the human DNA methyltransferase gene.Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.Fabry diseaseLiver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
P2860

Sequence variations in the first exon of alpha-galactosidase A.

Item
http://www.wikidata.org/entity/Q33595678
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Sequence variations in the first exon of alpha-galactosidase A.
@ast
Sequence variations in the first exon of alpha-galactosidase A.
@en
type
label
Sequence variations in the first exon of alpha-galactosidase A.
@ast
Sequence variations in the first exon of alpha-galactosidase A.
@en
prefLabel
Sequence variations in the first exon of alpha-galactosidase A.
@ast
Sequence variations in the first exon of alpha-galactosidase A.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Sequence variations in the first exon of alpha-galactosidase A.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932