Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.

Pavithra, Amritkumar; Chandru, Jayasankaran; Jeffrey, Justin Margret; Karthikeyen, N P; Srisailapathy, C R Srikumari

Pavithra, Amritkumar; Chandru, Jayasankaran; Jeffrey, Justin Margret; Karthikeyen, N P; Srisailapathy, C R Srikumari.

Afiliação

Pavithra A; Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600113, India.
Chandru J; Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600113, India.
Jeffrey JM; Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600113, India.
Karthikeyen NP; DOAST Ear Care Center, Anna Nagar, Chennai, India.
Srisailapathy CRS; Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600113, India. srikumaripavithra@gmail.com.

Eur Arch Otorhinolaryngol ; 274(1): 119-125, 2017 Jan.

Article em En | MEDLINE | ID: mdl-27481527

Assuntos

Conexinas/genética; Surdez/genética; Heterozigoto; Mutação; Conexina 26; Feminino; Genótipo; Humanos; Índia; Masculino; Linhagem

Palavras-chave

Assortative mating; Autosomal dominant; Compound heterozygosity; GJB2 mutations; India; Nonsyndromic hearing loss; Triallelic; p.R184Q mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Surdez / Heterozigoto / Mutação Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur Arch Otorhinolaryngol Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Índia

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