A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. Objective: To assess a possible genotype-phenotype correlation for GJB2....

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Autores principales: Cryns, K, Orzan, E, Murgia, A, Huygen, P, Moreno, F, del Castillo, I, Parker, C, Azaiez, H, Prasad, S, Cucci, R, Leonardi, E, Snoeckx, R, Govaerts, P, Van de Heyning, P H, Van de Heyning, C M, Smith, R, Van Camp, G
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2004
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735685/
https://ncbi.nlm.nih.gov/pubmed/14985372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.013896
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