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Article

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

Journal of medical genetics - 1 Aug 2004

Burdon K P, Wirth M G, Mackey D A, Russell-Eggitt I M, Craig J E, Elder J E, Dickinson J L, Sale M M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15286166
DOI: 10.1136/jmg.2004.018333
PMCID: PMC1735867

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Related research

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A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.PMID 15286166Read ↗

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Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.Semantic proximity Read ↗

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An aberrant sequence in a connexin46 mutant underlies congenital cataracts.Semantic proximity Read ↗

Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.Semantic proximity Read ↗

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A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.Semantic proximity Read ↗

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