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

Cataracts are a significant public health problem. Here, we describe the genetic alteration responsible for a progressive form of cataract, segregating as an autosomal dominant trait in a three-generation pedigree. Unlike most autosomal dominant cataracts, these are not clinically apparent at birth...

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Detalhes bibliográficos
Main Authors: Stephan, Dietrich A., Gillanders, Elizabeth, Vanderveen, Deborah, Freas-Lutz, Diana, Wistow, Graeme, Baxevanis, Andreas D., Robbins, Christiane M., Van Auken, Ann, Quesenberry, Matthew I., Bailey-Wilson, Joan, Juo, Suh-Hang Hank, Trent, Jeffrey M., Smith, Lois, Brownstein, Michael J.
Formato: Artigo
Idioma:en
Publicado em: The National Academy of Sciences 1999
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC15341/
https://ncbi.nlm.nih.gov/pubmed/9927684
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Internet

https://ncbi.nlm.nih.gov/pmc/articles/PMC15341/
https://ncbi.nlm.nih.gov/pubmed/9927684

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