Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.
a Department of Ophthalmology , University of California, San Francisco , San Francisco , California , USA.
Julius T
JT
Oatts
b Moorfields Eye Hospital & UCL Institute of Ophthalmology , London , UK.
Sarah
S
Hull
b Moorfields Eye Hospital & UCL Institute of Ophthalmology , London , UK.
Michel
M
Michaelides
b Moorfields Eye Hospital & UCL Institute of Ophthalmology , London , UK.
Gavin
G
Arno
b Moorfields Eye Hospital & UCL Institute of Ophthalmology , London , UK.
Andrew R
AR
Webster
a Department of Ophthalmology , University of California, San Francisco , San Francisco , California , USA.|b Moorfields Eye Hospital & UCL Institute of Ophthalmology , London , UK.
Anthony T
AT
Moore
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D041623:Tomography, Optical Coherence; D014157:Transcription Factors; D014792:Visual Acuity / Q000502:physiology; D000091102:YAP-Signaling Proteins; D055815:Young Adult
D048868:Adaptor Proteins, Signal Transducing; D010750:Phosphoproteins; D014157:Transcription Factors; D000091102:YAP-Signaling Proteins; C088374:YAP1 protein, human