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Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Chograni, Manèl, Derouiche, Kaouther, Chaabouni, Myriam, Lariani, Imen, Bouhamed, Habiba Chaabouni
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785518/
https://ncbi.nlm.nih.gov/pubmed/27081502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.8
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