title: Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
authors.affiliation: Institute of Genetics, Fudan University, Shanghai, China.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: L
authors.initials: L
authors.lastname: Jin
authors.forename: M
authors.initials: M
authors.lastname: Liu
authors.forename: Y
authors.initials: Y
authors.lastname: Wei
authors.forename: X
authors.initials: X
authors.lastname: Wu
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.forename: R
authors.initials: R
authors.lastname: Chu
authors.forename: J
authors.initials: J
authors.lastname: Chai
mesh_terms: D017398:Alternative Splicing; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D005136:Eye Proteins; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D005136:Eye Proteins; C099929:RPGR protein, human; D018698:Glutamic Acid