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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Chograni, Manèl, Derouiche, Kaouther, Chaabouni, Myriam, Lariani, Imen, Bouhamed, Habiba Chaabouni
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2014
Gaiak:
Sarrera elektronikoa: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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