(Q28264950)

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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen (English)

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D A Sirko-Osadsa

1

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M A Murray

series ordinal

2

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J A Scott

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3

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M A Lavery

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4

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M L Warman

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5

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N H Robin

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6

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language of work or name

English

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publication date

February 1998

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published in

The Journal of Pediatrics

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volume

132

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issue

2

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page(s)

368-71

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cites work

Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis

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https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

retrieved

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

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reference URL

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

retrieved

7 January 2021

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

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https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

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7 January 2021

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

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https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

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7 January 2021

The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens

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https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

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7 January 2021

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

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reference URL

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970466-4

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7 January 2021

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DOI

10.1016/S0022-3476(98)70466-4

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PubMed publication ID

9506662

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(Q28264950)

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

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