PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France
- 1 February 2001
- journal article
- Published by Elsevier in Molecular and Cellular Probes
- Vol. 15 (1) , 57-59
- https://doi.org/10.1006/mcpr.2000.0335
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening methodHuman Mutation, 1999
- Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counsellingThe Lancet, 1999
- Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive DeafnessNew England Journal of Medicine, 1998
- Connexin-26 mutations in sporadic and inherited sensorineural deafnessThe Lancet, 1998
- Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossHuman Mutation, 1998
- Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 GeneHuman Molecular Genetics, 1997
- Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansHuman Molecular Genetics, 1997
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessNature, 1997
- Méthode de détection directe simplifiée par PCR sur tache de sang séché de la mutation principale responsable de la mucoviscidoseImmuno-analyse & Biologie Spécialisée, 1991
- Transient neonatal hypertrypsinaemia as test for ΔF508 heterozygosityThe Lancet, 1991