Organization of the gene encoding the human beta-hexosaminidase alpha-chain
about
Characterization of the human lysosomal alpha-glucosidase geneStructure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated regionGene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genesA pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationDo exons code for structural or functional units in proteins?Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Genetics of inherited human epilepsiesThe 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish populationAssessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.
P2860
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P2860
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
description
1987 nî lūn-bûn
@nan
1987 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@ast
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@en
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@nl
type
label
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@ast
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@en
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@nl
prefLabel
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@ast
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@en
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@nl
P1476
Organization of the gene encoding the human beta-hexosaminidase alpha-chain
@en
P2093
P304
P407
P577
1987-04-01T00:00:00Z