A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients
about
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsAnalysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansSplicing in Caenorhabditis elegans does not require an AG at the 3' splice acceptor site.Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
P2860
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին 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
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@ast
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@en
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@nl
type
label
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@ast
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@en
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@nl
prefLabel
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@ast
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@en
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@nl
P2093
P2860
P3181
P1476
A novel mutation in the invari ...... s (Tay-Sachs disease) patients
@en
P2093
C E Dowling
G H Thomas
H H Kazazian
M B Petersen
P2860
P304
P3181
P407
P577
1991-06-01T00:00:00Z