title: Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
abstract: Recently a new gene called RPGR (retinitis pigmentosa GTPase regulator) was isolated in Xp21.1 and found to be mutated in patients with RP3 type X-linked retinitis pigmentosa. Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.
authors.affiliation: International Institute of Genetics and Biophysics, CNR, Naples, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Miano
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: T
authors.initials: T
authors.lastname: Solans
authors.forename: B
authors.initials: B
authors.lastname: Grammatico
authors.forename: C
authors.initials: C
authors.lastname: Migliaccio
authors.forename: V
authors.initials: V
authors.lastname: Cirigliano
authors.forename: C
authors.initials: C
authors.lastname: DeBernardo
authors.forename: V
authors.initials: V
authors.lastname: Ventruto
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Wright
authors.forename: G
authors.initials: G
authors.lastname: Del Porto
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: M
authors.initials: M
authors.lastname: D'Urso
authors.forename: A
authors.initials: A
authors.lastname: Ciccodicola
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004398:Dyneins / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D011506:Proteins; D004398:Dyneins