Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts (Q24299315)

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C Slingsby

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A Basak

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M Cherif-Chefchaouni

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B Benazzouz

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Y Hajaji

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S Boutayeb

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O Gribouval

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L Arbogast

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A Berraho

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M Abitbol

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L Hilal

original language of film or TV show

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English

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publication date

April 2003

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published in

Journal of Medical Genetics

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volume

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issue

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page(s)

262-7

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cites work

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

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Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

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A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

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Crystal cataracts: human genetic cataract caused by protein crystallization

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

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A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

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Molecular basis of a progressive juvenile-onset hereditary cataract

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

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Connexin46 mutations in autosomal dominant congenital cataract

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Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

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

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A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

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A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

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Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

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Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

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Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

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Conformational change and destabilization of cataract gammaC-crystallin T5P mutant

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Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene

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A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

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

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