Nucleotide sequence of the human alpha-galactosidase A gene
about
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseA case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by SerNature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseSequence variations in the first exon of alpha-galactosidase A.Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Twenty novel mutations in the alpha-galactosidase A gene causing Fabry diseaseFundamental research is the basis for understanding and treatment of many human diseases.Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.Novel GLA Deletion in a Cypriot Female Presenting with Cornea VerticillataShort-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.Fabry's disease: an example of cardiorenal syndrome type 5.alpha-Galactosidase Aga27A, an enzymatic component of the Clostridium josui cellulosome.Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotypeSSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry diseaseA mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.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.High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease.Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.New mutations in the GLA gene in Brazilian families with Fabry disease.Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.Genomic analysis of Brazilian patients with Fabry disease.Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.Anderson-Fabry disease in heart failureFabry disease
P2860
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P2860
Nucleotide sequence of the human alpha-galactosidase A gene
description
1989 nî lūn-bûn
@nan
1989 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Nucleotide sequence of the human alpha-galactosidase A gene
@ast
Nucleotide sequence of the human alpha-galactosidase A gene
@en
Nucleotide sequence of the human alpha-galactosidase A gene
@nl
type
label
Nucleotide sequence of the human alpha-galactosidase A gene
@ast
Nucleotide sequence of the human alpha-galactosidase A gene
@en
Nucleotide sequence of the human alpha-galactosidase A gene
@nl
prefLabel
Nucleotide sequence of the human alpha-galactosidase A gene
@ast
Nucleotide sequence of the human alpha-galactosidase A gene
@en
Nucleotide sequence of the human alpha-galactosidase A gene
@nl
P2093
P2860
P3181
P356
P1476
Nucleotide sequence of the human alpha-galactosidase A gene
@en
P2093
D F Bishop
R J Desnick
R Kornreich
P2860
P304
P3181
P356
10.1093/NAR/17.8.3301
P407
P577
1989-04-25T00:00:00Z