Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim, So Young; Kim, Ah Reum; Kim, Nayoung K D; Lee, Chung; Kim, Min Young; Jeon, Eun-Hee; Park, Woong-Yang; Choi, Byung Yoon

Kim, So Young; Kim, Ah Reum; Kim, Nayoung K D; Lee, Chung; Kim, Min Young; Jeon, Eun-Hee; Park, Woong-Yang; Choi, Byung Yoon.

Afiliação

Kim SY; From the Department of Otorhinolaryngology-Head and Neck Surgery, CHA medical center, CHA university, Seongnam (SYK), Department of Otorhinolaryngology-Head and Neck Surgery (SYK, ARK), Seoul National University Hospital, Seoul National University College of Medicine; Samsung Genome Institue (NKDK, CL), Samsung Medical Center, Seoul, Korea; Department of Health Sciences and Technology (CL), SAIHST, Sungkyunkwan University, Seobu-ro, Jangan-gu, Suwon, Republic of Korea; Department of Otorhinolary

Medicine (Baltimore) ; 95(14): e3029, 2016 Apr.

Article em En | MEDLINE | ID: mdl-27057829

Assuntos

Conexinas/genética; Perda Auditiva Neurossensorial/genética; Heterozigoto; Sequenciamento de Nucleotídeos em Larga Escala; Mutação; Adolescente; Adulto; Criança; Pré-Escolar; Conexina 26; Feminino; Humanos; Lactente; Masculino; Linhagem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Conexinas / Sequenciamento de Nucleotídeos em Larga Escala / Perda Auditiva Neurossensorial / Heterozigoto / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Medicine (Baltimore) Ano de publicação: 2016 Tipo de documento: Article

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