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Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT...
Gorde:
| Argitaratua izan da: | Genes (Basel) |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7140863/ https://ncbi.nlm.nih.gov/pubmed/32120898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030250 |
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