Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

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Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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Interstitial deletion at chrom ...... d his father without cataract.

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Interstitial deletion at chromosome 16p13.2 involving TMEM114

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label

Interstitial deletion at chrom ...... d his father without cataract.

@en

Interstitial deletion at chromosome 16p13.2 involving TMEM114

@nl

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Interstitial deletion at chrom ...... d his father without cataract.

@en

Interstitial deletion at chromosome 16p13.2 involving TMEM114

@nl

P1476

Interstitial deletion at chrom ...... d his father without cataract.

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P2093

Christopher P Barnett

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Dayu Gai

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Jillian Nicholl

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Sui Yu

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Wendy Waters

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P2860

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

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834-836

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scholarly article

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10.1002/AJMG.A.36336

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English

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164A

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P577

2013-12-19T00:00:00Z

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24357539

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P921

transmembrane protein