Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
about
Spontaneous rescue from cystic fibrosis in a mouse model.Nonsense-mediated decay of human HEXA mRNA.Stop codons affect 5' splice site selection by surveillance of splicing.High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 intervalGlutaric aciduria type I in the Arab and Jewish communities in IsraelMolecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Enzyme replacement in a canine model of Hurler syndrome.Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping.Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAEDisruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic areaNearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.The Réunion paradox and the digenic model.Defects in RNA splicing and the consequence of shortened translational reading frames.
P2860
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P2860
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Molecular analysis of Hurler s ...... ne in a small geographic area.
@ast
Molecular analysis of Hurler s ...... ne in a small geographic area.
@en
type
label
Molecular analysis of Hurler s ...... ne in a small geographic area.
@ast
Molecular analysis of Hurler s ...... ne in a small geographic area.
@en
prefLabel
Molecular analysis of Hurler s ...... ne in a small geographic area.
@ast
Molecular analysis of Hurler s ...... ne in a small geographic area.
@en
P2093
P2860
P1476
Molecular analysis of Hurler s ...... ne in a small geographic area.
@en
P2093
P2860
P304
P407
P577
1993-08-01T00:00:00Z