Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 57-62

  Zito, Ilaria ^a   Thiselton, Dawn L ^a   Gorin, Michael B ^b   Stout, J Tim ^c   Plant, Catherine ^a   Bird, Alan C ^a   Bhattacharya, Shomi S ^a   Hardcastle, Alison J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; REGULATOR PROTEIN;

ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

EID: 0032803677     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900110     Document Type: Article

References (20)

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