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A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han, Mingyu; Li, Zhifeng; Wang, Wenlu; Huang, Shasha; Lu, Yanping; Gao, Zhiying; Wang, Longxia; Kang, Dongyang; Li, Linwei; Liu, Yiqian; Xu, Mengnan; Cram, David S; Dai, Pu.
Afiliação
  • Han M; Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
  • Li Z; Berry Genomics Corporation, Beijing, China.
  • Wang W; Berry Genomics Corporation, Beijing, China.
  • Huang S; Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
  • Lu Y; Department of Gynecology and Obstetrics, Chinese PLA General Hospital, Beijing, China.
  • Gao Z; Department of Gynecology and Obstetrics, Chinese PLA General Hospital, Beijing, China.
  • Wang L; Department of Ultrasonography, Chinese PLA General Hospital, Beijing, China.
  • Kang D; Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
  • Li L; Berry Genomics Corporation, Beijing, China.
  • Liu Y; Berry Genomics Corporation, Beijing, China.
  • Xu M; Berry Genomics Corporation, Beijing, China.
  • Cram DS; Berry Genomics Corporation, Beijing, China.
  • Dai P; Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
Genet Med ; 19(12): 1309-1316, 2017 12.
Article em En | MEDLINE | ID: mdl-28541280
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Diagnóstico Pré-Natal / Testes Genéticos / Conexinas / Surdez / Genes Recessivos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Diagnóstico Pré-Natal / Testes Genéticos / Conexinas / Surdez / Genes Recessivos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article