Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24
about
The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.Role of beta Arg211 in the active site of human beta-hexosaminidase B.
P2860
Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24
description
1991 nî lūn-bûn
@nan
1991 թուականին հրատարակուած գիտական յօդուած
@hyw
1991 թվականին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@ast
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@en
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@nl
type
label
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@ast
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@en
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@nl
prefLabel
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@ast
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@en
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@nl
P2093
P356
P1476
Assignment of beta-hexosaminid ...... hromosomal region 15q23----q24
@en
P2093
P356
10.1159/000133077
P407
P577
1991-01-01T00:00:00Z