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

Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sens...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011076/
https://ncbi.nlm.nih.gov/pubmed/27588452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.010
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados