A phenotypic variant of Knobloch syndrome. - Wikidata - wikimedia - TriplyDB

A phenotypic variant of Knobloch syndrome.

A phenotypic variant of Knobloch syndrome.

http://www.wikidata.org/entity/Q46592494

about

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.ADAMTS-18: a metalloproteinase with multiple functions A major X-linked locus affects kidney function in mice.Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

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A phenotypic variant of Knobloch syndrome.

http://www.wikidata.org/entity/Q46592494

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

@wuu

2008年学术文章

@zh

2008年学术文章

@zh-cn

2008年学术文章

@zh-hans

2008年学术文章

@zh-my

2008年学术文章

@zh-sg

2008年學術文章

@yue

2008年學術文章

@zh-hant

name

A phenotypic variant of Knobloch syndrome.

@en

A phenotypic variant of Knobloch syndrome.

@nl

type

label

A phenotypic variant of Knobloch syndrome.

@en

A phenotypic variant of Knobloch syndrome.

@nl

prefLabel

A phenotypic variant of Knobloch syndrome.

@en

A phenotypic variant of Knobloch syndrome.

@nl

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Ophthalmic Genetics

P1476

A phenotypic variant of Knobloch syndrome.

@en

P2093

Denise Williams

http://www.w3.org/2001/XMLSchema#string

Graham R Kirkby

http://www.w3.org/2001/XMLSchema#string

John R Ainsworth

http://www.w3.org/2001/XMLSchema#string

Theresa Anne Williams

http://www.w3.org/2001/XMLSchema#string

P2860

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

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85-86

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scholarly article

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10.1080/13816810701850041

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2

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29

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2008-06-01T00:00:00Z

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18484314

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