Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Daiger
Stephen P
SP
Human Genetics Center, Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA. stephen.p.daiger@uth.tmc.edu
Sullivan
Lori S
LS
Bowne
Sara J
SJ
Kennan
Avril
A
Humphries
Peter
P
Birch
David G
DG
Heckenlively
John R
JR
D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005799:Genes, Dominant; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D007168:IMP Dehydrogenase / Q000235:genetics*; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology
D005136:Eye Proteins; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human; D007168:IMP Dehydrogenase; C488211:IMPDH1 protein, human