The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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The expanding spectrum of COL2 ...... skeletal dysplasia phenotype.

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The expanding spectrum of COL2 ...... skeletal dysplasia phenotype.

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The expanding spectrum of COL2 ...... skeletal dysplasia phenotype.

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P1476

The expanding spectrum of COL2 ...... skeletal dysplasia phenotype.

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P2093

Albert David

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Alice Goldenberg

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Alice Masurel

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Anne-Lise Delezoide

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Aurélie Fabre

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Bertrand Isidor

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Bruno Dumont

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Chloé Quélin

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Christel Thauvin

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Christine Coubes

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P2860

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

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

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.

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ejhg.2015.250

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992-1000

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scholarly article

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10.1038/EJHG.2015.250

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Valérie Cormier-Daire

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2015-12-02T00:00:00Z

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1052601435

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26626311

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5070901

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