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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
Diaz-Horta, Oscar; Bademci, Guney; Tokgoz-Yilmaz, Suna; Guo, Shengru; Zafeer, Faraz; Sineni, Claire J; Duman, Duygu; Farooq, Amjad; Tekin, Mustafa.
Afiliación
  • Diaz-Horta O; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
  • Bademci G; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
  • Tokgoz-Yilmaz S; Diagnosis-Rehabilitation Center of Hearing, Balance and Speech-Language Disorders, Ankara University School of Medicine, Ankara, Turkey.
  • Guo S; Department of Audiology, Ankara University Health Sciences Faculty, Ankara, Turkey.
  • Zafeer F; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
  • Sineni CJ; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
  • Duman D; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
  • Farooq A; Department of Audiology, Ankara University Health Sciences Faculty, Ankara, Turkey.
  • Tekin M; Department of Biochemistry and Molecular Biology, Miller School of Medicine, University of Miami, Miami, Florida.
Clin Genet ; 96(6): 575-578, 2019 12.
Article en En | MEDLINE | ID: mdl-31432506

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Genes Dominantes / Pérdida Auditiva / Proteínas de Microfilamentos / Mutación Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article Pais de publicación: Dinamarca

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Genes Dominantes / Pérdida Auditiva / Proteínas de Microfilamentos / Mutación Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article Pais de publicación: Dinamarca