Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
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Switzerland: MDPI
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English
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Switzerland: MDPI
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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) and analyzed whether the recurring mechanisms fo...
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Full title
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7140863
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7140863
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes11030250
