Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 13, 2012, Pages 8232-8237

  Branham, Kari ^a   Othman, Mohammad ^a   Brumm, Matthew ^a   Karoukis, Athanasios J ^a   Atmaca Sonmez, Pelin ^a   Yashar, Beverly M ^a   Schwartz, Sharon B ^b   Stover, Niamh B ^c   Trzupek, Karmen ^c   Wheaton, Dianna ^d   Jennings, Barbara ^e   Ciccarelli, Maria Laura ^f   Thiran Jayasundera, K ^a   Lewis, Richard A ^g   Birch, David ^d   Bennett, Jean ^h   Sieving, Paul A ^a,i   Andreasson, Sten ^j   Duncan, Jacque L ^k   Fishman, Gerald A ^l   Iannaccone, Alessandro ^e   Weleber, Richard G ^c   Jacobson, Samuel G ^b   Heckenlively, John R ^a   Swaroop, Anand ^a,i   more..

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^e UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^f Israelitic Hospital   (Italy)

^g CULLEN EYE INSTITUTE   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ NATIONAL EYE INSTITUTE   (United States)

^j LUND UNIVERSITY   (Sweden)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DEGENERATION; RP2 GENE; RPGR GENE;

DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; RANDOM AMPLIFIED POLYMORPHIC DNA TECHNIQUE; REGISTRIES; RETINITIS PIGMENTOSA; SEX DISTRIBUTION;

EID: 84873328062     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11025     Document Type: Article

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