Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals

Item
http://www.wikidata.org/entity/Q24670079
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South AfrMutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
P2860

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals

Item
http://www.wikidata.org/entity/Q24670079
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
Six novel deleterious and thre ...... se A in non-Jewish individuals
@ast
Six novel deleterious and thre ...... se A in non-Jewish individuals
@en
Six novel deleterious and thre ...... se A in non-Jewish individuals
@nl
type
label
Six novel deleterious and thre ...... se A in non-Jewish individuals
@ast
Six novel deleterious and thre ...... se A in non-Jewish individuals
@en
Six novel deleterious and thre ...... se A in non-Jewish individuals
@nl
prefLabel
Six novel deleterious and thre ...... se A in non-Jewish individuals
@ast
Six novel deleterious and thre ...... se A in non-Jewish individuals
@en
Six novel deleterious and thre ...... se A in non-Jewish individuals
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932
P3181
P1433
P1476
Six novel deleterious and thre ...... se A in non-Jewish individuals
@en
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932