Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa

American Journal of Ophthalmology

Volumn 140, Issue 1, 2005, Pages 163-165

  Wada, Yuko ^a   Tada, Asako ^a   Itabashi, Toshitaka ^a   Kawamura, Miyuki ^a   Sato, Hajime ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; GENE PRODUCT; INOSINATE DEHYDROGENASE; INOSINE MONOPHOSPHATE DEHYDROGENASE 1; LEUCINE; LYSINE; PROLINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOMICROSCOPY; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; HUMAN; MALE; MUTAGENESIS; MUTATION RATE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SLIT LAMP; VISUAL ACUITY; VISUAL FIELD;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; GENETIC SCREENING; HUMANS; IMP DEHYDROGENASE; JAPAN; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY; VISUAL FIELDS;

EID: 22444433855     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.01.017     Document Type: Article

References (3)

1. S.J. Bowne, L.S. Sullivan, S.H. Blanton Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa Hum Mol Genet 11 2002 559 568
2. A. Kennan, A. Aherne, A. Palfi Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice Hum Mol Genet 11 2002 547 557
3. S. Grover, G.A. Fishman, E.M. Stone A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa Ophthalmology 111 2004 1910 1916