Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

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http://www.wikidata.org/entity/Q57206675
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaIdentification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene.Inhibition of the Pim1 oncogene results in diminished visual function.Alternative splicing of type II procollagen: IIB or not IIB?Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndromeTwo Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in KoreaHearing impairment in Stickler syndrome: a systematic review.Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
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Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

Item
http://www.wikidata.org/entity/Q57206675
description
im Jahr 2008 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 2008
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2008
@uk
name
Missense and nonsense mutation ...... r variant of Stickler syndrome
@en
Missense and nonsense mutation ...... r variant of Stickler syndrome
@nl
type
label
Missense and nonsense mutation ...... r variant of Stickler syndrome
@en
Missense and nonsense mutation ...... r variant of Stickler syndrome
@nl
prefLabel
Missense and nonsense mutation ...... r variant of Stickler syndrome
@en
Missense and nonsense mutation ...... r variant of Stickler syndrome
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Missense and nonsense mutation ...... r variant of Stickler syndrome
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698