Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.
Aherne
Aileen
A
The Ocular Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland.
Kennan
Avril
A
Kenna
Paul F
PF
McNally
Niamh
N
Farrar
G Jane
GJ
Humphries
Pete
P
D000818:Animals; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000378:metabolism; D004596:Electroretinography; D005786:Gene Expression Regulation; D006801:Humans; D007168:IMP Dehydrogenase / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D009154:Mutation; D010786:Photoreceptor Cells / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D018076:DNA, Complementary; D007168:IMP Dehydrogenase; C488211:IMPDH1 protein, human