Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley
Jill
J
Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom.
Leroy
Bart P
BP
Hart-Holden
Niki
N
Lafaut
Bart A
BA
Loeys
Bart
B
Messiaen
Ludwine M
LM
Perveen
Rahat
R
Reddy
M Ashwin
MA
Bhattacharya
Shomi S
SS
Traboulsi
Elias
E
Baralle
Diana
D
De Laey
Jean-Jacques
JJ
Puech
Bernard
B
Kestelyn
Philippe
P
Moore
Anthony T
AT
Manson
Forbes D C
FD
Black
Graeme C M
GC
D000075002:Bestrophins; D018118:Chloride Channels; D015862:Choroid Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014822:Vitreous Body
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins