A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.
Danciger
M
M
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA; Loyola Marymount University, Los Angeles, CA, USA. danciger@ucla.edu
Heilbron
V
V
Gao
Y Q
YQ
Zhao
D Y
DY
Jacobson
S G
SG
Farber
D B
DB
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D000328:Adult; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005136:Eye Proteins; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human