Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

Danial-Farran, Nada; Chervinsky, Elena; Nadar-Ponniah, Prathamesh T; Cohen Barak, Eran; Taiber, Shahar; Khayat, Morad; Avraham, Karen B; Shalev, Stavit A

Danial-Farran, Nada; Chervinsky, Elena; Nadar-Ponniah, Prathamesh T; Cohen Barak, Eran; Taiber, Shahar; Khayat, Morad; Avraham, Karen B; Shalev, Stavit A.

Afiliación

Danial-Farran N; Genetics Institute, Ha'emek Medical Center, Afula, Israel. nada_fa@clalit.org.il.
Chervinsky E; Rappaport Faculty of Medicine Technion, Haifa, Israel. nada_fa@clalit.org.il.
Nadar-Ponniah PT; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. nada_fa@clalit.org.il.
Cohen Barak E; Genetics Institute, Ha'emek Medical Center, Afula, Israel.
Taiber S; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Khayat M; Rappaport Faculty of Medicine Technion, Haifa, Israel.
Avraham KB; Department of Dermatology, Ha'emek Medical Center, Afula, Israel.
Shalev SA; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

Eur J Hum Genet ; 29(2): 338-342, 2021 02.

Article en En | MEDLINE | ID: mdl-32939038

Asunto(s)

Proteínas de la Matriz Extracelular/genética; Pérdida Auditiva/genética; Homocigoto; Línea Celular; Mutación del Sistema de Lectura; Pérdida Auditiva Sensorineural/genética; Humanos; Linaje; Enfermedades Vestibulares/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Pérdida Auditiva / Homocigoto Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Reino Unido

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