PMID- 10090907 OWN - NLM STAT- MEDLINE DCOM- 20000405 LR - 20201209 IS - 0002-9297 (Print) IS - 0002-9297 (Linking) VI - 64 IP - 4 DP - 1999 Apr TI - Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. PG - 1210-5 FAU - Hardcastle, A J AU - Hardcastle AJ FAU - Thiselton, D L AU - Thiselton DL FAU - Van Maldergem, L AU - Van Maldergem L FAU - Saha, B K AU - Saha BK FAU - Jay, M AU - Jay M FAU - Plant, C AU - Plant C FAU - Taylor, R AU - Taylor R FAU - Bird, A C AU - Bird AC FAU - Bhattacharya, S AU - Bhattacharya S LA - eng PT - Letter PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Hum Genet JT - American journal of human genetics JID - 0370475 RN - 0 (Eye Proteins) RN - 0 (Intracellular Signaling Peptides and Proteins) RN - 0 (Membrane Proteins) RN - 0 (Proteins) RN - 0 (RP2 protein, human) RN - EC 3.6.1.- (GTP-Binding Proteins) SB - IM MH - Amino Acid Sequence MH - Base Sequence MH - Exons/genetics MH - *Eye Proteins MH - Female MH - GTP-Binding Proteins MH - Genetic Heterogeneity MH - Genetic Linkage/*genetics MH - Haplotypes/genetics MH - Humans MH - Intracellular Signaling Peptides and Proteins MH - Male MH - Membrane Proteins MH - Molecular Sequence Data MH - Mutation/*genetics MH - Pedigree MH - Polymorphism, Single-Stranded Conformational MH - Proteins/*genetics MH - Retinitis Pigmentosa/*genetics MH - X Chromosome/*genetics PMC - PMC1377846 EDAT- 1999/03/26 03:02 MHDA- 2001/07/04 10:01 CRDT- 1999/03/26 03:02 PHST- 1999/03/26 03:02 [pubmed] PHST- 2001/07/04 10:01 [medline] PHST- 1999/03/26 03:02 [entrez] AID - AJHG980788 [pii] AID - 10.1086/302325 [doi] PST - ppublish SO - Am J Hum Genet. 1999 Apr;64(4):1210-5. doi: 10.1086/302325.