Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. (Q43143129)

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26 January 2020

title

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families (English)

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26 January 2020

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Alessandro Santana

1

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26 January 2020

Mauro Waiswol

2

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26 January 2020

Enyr Saran Arcieri

3

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26 January 2020

José Paulo Cabral de Vasconcellos

4

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26 January 2020

Mônica Barbosa de Melo

5

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26 January 2020

publication date

17 April 2009

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26 January 2020

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26 January 2020

volume

15

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26 January 2020

page(s)

793-800

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Crystallin gene mutations in Indian families with inherited pediatric cataract

26 January 2020

cites work

1 reference

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Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

25 May 2018

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Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.

25 May 2018

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25 May 2018

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

25 May 2018

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Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

25 May 2018

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25 May 2018

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Crystallins, genes and cataract

25 May 2018

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The morphology and natural history of childhood cataracts

25 May 2018

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Elimination of cataract blindness: a global perspective entering the new millenium

25 May 2018

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Childhood blindness in the context of VISION 2020--the right to sight

25 May 2018

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Congenital cataracts: gene mapping

25 May 2018

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The genetics of childhood cataract

25 May 2018

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The DNA sequence of human chromosome 21

25 May 2018

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

25 May 2018

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

25 May 2018

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Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2

25 May 2018

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The gamma-crystallins and human cataracts: a puzzle made clearer

25 May 2018

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

25 May 2018

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25 May 2018

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Autosomal dominant congenital cataract. Interocular phenotypic variability.

25 May 2018

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The etiology of congenital cataracts. A survey of 386 cases

25 May 2018

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Autosomal dominant congenital cataract. Morphology and genetic mapping

25 May 2018

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25 May 2018

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A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

25 May 2018

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15 August 2018

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Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.

15 August 2018

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A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

15 August 2018

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Wrapping the alpha-crystallin domain fold in a chaperone assembly

15 August 2018

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12 December 2020

Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family

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12 December 2020

Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene

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12 December 2020

[The genetics of hereditary cataract]

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Cataract mutations and lens development

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12 December 2020

Structural and functional consequences of the mutation of a conserved arginine residue in alphaA and alphaB crystallins

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12 December 2020

Identifiers

1 reference

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26 January 2020

PubMed publication ID

19390652

1 reference