The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Item
http://www.wikidata.org/entity/Q34172461
The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia developmentTemporal gene expression profiling of the rat knee joint capsule during immobilization-induced joint contractures.Two 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.Mosaicism in Stickler syndrome.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversityMutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeCOL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Treating seizures in Creutzfeldt-Jakob disease.Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.Stickler syndrome associated with epilepsy: report of three cases.Mechanisms of Mendelian dominance.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
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The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Item
http://www.wikidata.org/entity/Q34172461
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
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2003年論文
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2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
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2003年论文
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name
The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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type
label
The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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The Stickler syndrome: genotyp ...... II collagen gene locus COL2A1.
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10.1097/00125817-200301000-00004
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