(Q33869187)

29 July 2017

title

A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q. (English)

1 reference

29 July 2017

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Guishun Liu

1

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29 July 2017

Yunbo Li

2

1 reference

29 July 2017

Yanfei Ruan

3

1 reference

29 July 2017

Wenping Cao

4

1 reference

29 July 2017

Li Xin

5

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29 July 2017

Jiangyuan Qian

6

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29 July 2017

Jingzhi Gu

7

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29 July 2017

publication date

19 May 2010

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29 July 2017

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29 July 2017

volume

16

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29 July 2017

page(s)

874-879

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A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Insights into the beaded filament of the eye lens

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Novel HSF4 mutation causes congenital total white cataract in a Chinese family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

The PITX3 gene in posterior polar congenital cataract in Australia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Molecular genetic basis of inherited cataract and associated phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

The morphology and natural history of childhood cataracts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

The genetics of childhood cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874577

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

29 October 2018

1 reference

12 December 2020

A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family

1 reference

12 December 2020

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1

1 reference

12 December 2020

A novel mutation in CRYBB2 responsible for inherited coronary cataract

1 reference

12 December 2020

Identifiers

PMC publication ID

2874577

1 reference

29 July 2017

1 reference