Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

Human Mutation

Volumn 19, Issue 5, 2002, Pages 486-500

  Vervoort, Raf ^a   Wright, Alan F ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

GTPase; RCC1; Retinitis pigmentosa, X linked; RPGR; XLRP

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ALTERNATIVE RNA SPLICING; BRONCHUS MUCOSA; CORRELATION FUNCTION; EXON; FAMILY; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; REVIEW; RNA TRANSLATION; SEQUENCE HOMOLOGY; X CHROMOSOME LINKED DISORDER;

CARRIER PROTEINS; DYNEIN ATPASE; EYE PROTEINS; GENOTYPE; HUMANS; PHENOTYPE; PROTEINS; RETINITIS PIGMENTOSA; X CHROMOSOME;

EID: 0036241436     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10057     Document Type: Review

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