SLITRK6 mutations cause myopia and deafness in humans and mice

Journal of Clinical Investigation

Volumn 123, Issue 5, 2013, Pages 2094-2102

  Tekin, Mustafa ^a,b   Chioza, Barry A ^c   Matsumoto, Yoshifumi ^d   Diaz Horta, Oscar ^a   Cross, Harold E ^e   Duman, Duygu ^b   Kokotas, Haris ^f   Moore Barton, Heather L ^c   Sakoori, Kazuto ^d   Ota, Maya ^d   Odaka, Yuri S ^d   Foster II, Joseph ^a   Cengiz, F Basak ^b   Tokgoz Yilmaz, Suna ^b   Tekeli, Oya ^b   Grigoriadou, Maria ^f   Petersen, Michael B ^f,g   Sreekantan Nair, Ajith ^c   Gurtz, Kay ^h   Xia, Xia Juan ⁱ   Pandya, Arti ⁱ   Patton, Michael A ^c   Young, Juan I ^a   Aruga, Jun ^d   Crosby, Andrew H ^c   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b ANKARA UNIVERSITY   (Turkey)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^e UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^f AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^g AALBORG UNIVERSITY HOSPITAL   (Denmark)

^h Windows of Hope Genetic Study   (United States)

ⁱ VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MESSENGER RNA; MUTANT PROTEIN; SLIT AND NTRK LIKE FAMILY MEMBER 6 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL SURFACE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MOUSE; MYOPIA; NONHUMAN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA; SYNAPTOGENESIS; WILD TYPE;

ADOLESCENT; ADULT; ANIMALS; CHILD; CODON, NONSENSE; FEMALE; HEARING; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MIDDLE AGED; MUTATION; MYOPIA; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; YOUNG ADULT;

EID: 84877101612     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI65853     Document Type: Article

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