A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa

This publication has 25 references indexed in Scilit:

• A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)
  Molecular Cell, 2001
• Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
  Human Molecular Genetics, 2001
• Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
  Nature Genetics, 1999
• A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
  Nature Genetics, 1999
• A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene
  American Journal of Human Genetics, 1998
• Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
  Science, 1994
• Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
  Nature Genetics, 1993
• A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
  Nature, 1991
• Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
  Nature, 1991
• A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
  Nature, 1990