Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Namburi, Prasanthi; Ratnapriya, Rinki; Khateb, Samer; Lazar, Csilla H; Kinarty, Yael; Obolensky, Alexey; Erdinest, Inbar; Marks-Ohana, Devorah; Pras, Eran; Ben-Yosef, Tamar; Newman, Hadas; Gross, Menachem; Swaroop, Anand; Banin, Eyal; Sharon, Dror

Namburi, Prasanthi; Ratnapriya, Rinki; Khateb, Samer; Lazar, Csilla H; Kinarty, Yael; Obolensky, Alexey; Erdinest, Inbar; Marks-Ohana, Devorah; Pras, Eran; Ben-Yosef, Tamar; Newman, Hadas; Gross, Menachem; Swaroop, Anand; Banin, Eyal; Sharon, Dror.

Am J Hum Genet ; 99(5): 1222-1223, 2016 11 03.

Article em En | MEDLINE | ID: mdl-27814526

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097977
https://dx.doi.org/10.1016/j.ajhg.2016.09.012

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article

Texto completo

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097977
https://dx.doi.org/10.1016/j.ajhg.2016.09.012

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article