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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...
Gorde:
| Argitaratua izan da: | Hum Genome Var |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2014
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| 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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