Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

Item
http://www.wikidata.org/entity/Q28252196
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsMolecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenIdentification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAEA nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasiaA novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.Molecular Cloning and Characterization of Bovine β-Mannosidase
P2860

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

Item
http://www.wikidata.org/entity/Q28252196
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@ast
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@en
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@nl
type
label
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@ast
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@en
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@nl
prefLabel
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@ast
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@en
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698