Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay
Donna S
DS
Institute of Ophthalmology, London, UK.
Henderson
Robert H
RH
Sergouniotis
Panagiotis I
PI
Li
Zheng
Z
Moradi
Phillip
P
Holder
Graham E
GE
Waseem
Naushin
N
Bhattacharya
Shomi S
SS
Aldahmesh
Mohammed A
MA
Alkuraya
Fowzan S
FS
Meyer
Brian
B
Webster
Andrew R
AR
Moore
Anthony T
AT
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000201:enzymology / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult; D000076202:c-Mer Tyrosine Kinase
D011518:Proto-Oncogene Proteins; C097072:MERTK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D000076202:c-Mer Tyrosine Kinase