SLITRK6 mutations cause myopia and deafness in humans and mice

Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the iden...

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Auteurs principaux: Tekin, Mustafa, Chioza, Barry A., Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E., Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L., Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S., Foster, Joseph, Cengiz, F. Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A., Young, Juan I., Aruga, Jun, Crosby, Andrew H.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2013
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3635725/
https://ncbi.nlm.nih.gov/pubmed/23543054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI65853
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