SLITRK6 mutations cause myopia and deafness in humans and mice
SLITRK6 mutations cause myopia and deafness in humans and mice
About this item
Full title
Author / Creator
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 and Crosby, Andrew H.
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 identification of 3 homozygous nonsense mutations (p.R...
Alternative Titles
Full title
SLITRK6 mutations cause myopia and deafness in humans and mice
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3635725
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3635725
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI65853
