Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
al-Maghtheh
M
M
Department of Molecular Genetics, Institute of Ophthalmology, London, England.
Inglehearn
C
C
Lunt
P
P
Jay
M
M
Bird
A
A
Bhattacharya
S
S
D001120:Arginine / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007930:Leucine / Q000235:genetics; D008239:Lysine / Q000235:genetics; D008715:Methionine / Q000235:genetics; D017354:Point Mutation; D011487:Protein Conformation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*
D012243:Rhodopsin; D001120:Arginine; D008715:Methionine; D007930:Leucine; D008239:Lysine