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Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid
OBJECTIVE: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. METHODS: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trim...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
CIC Edizioni Internazionali
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3931280/ https://ncbi.nlm.nih.gov/pubmed/24611097 |
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