Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease

Item
http://www.wikidata.org/entity/Q28286014
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.Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase geneFrequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programA 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)GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.Selective histocompatibility leukocyte antigen (HLA)-A2 loss caused by aberrant pre-mRNA splicing in 624MEL28 melanoma cells.Bioinformatic primer for clinical and translational scienceInsertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.Effect of 5' splice site mutations on splicing of the preceding intron.Intron definition in splicing of small Drosophila introns.Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.
P2860

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease

Item
http://www.wikidata.org/entity/Q28286014
description
1988 nî lūn-bûn
@nan
1988 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@ast
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@en
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@nl
type
label
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@ast
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@en
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@nl
prefLabel
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@ast
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@en
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P921
P1433
P1476
Multiple abnormal beta-hexosam ...... patient with Tay-Sachs disease
@en
P2093
P304
P31
P407
P433
P478
P577
P698
P921