Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

Investigative Ophthalmology and Visual Science

Volumn 38, Issue 10, 1997, Pages 1983-1997

  Jacobson, Samuel G ^a   Buraczynska, Monika ^b,c   Milam, Ann H ^d   Chen, Cynthia ^b   Järvaläinen, Marketta ^e   Fujita, Ricardo ^b   Wu, Weiping ^b   Huang, Yijun ^a   Cideciyan, Artur V ^a   Swaroop, Anand ^b,f  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TURKU   (Finland)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Hereditary retinal degeneration; Optical coherence tomography; Rod and cone photoreceptors; RPGR gene; X chromosome

Indexed keywords

GENE PRODUCT; GUANOSINE TRIPHOSPHATASE;

ARTICLE; CHOROID CAPILLARY LAYER; CHROMOSOME XP; CONTROLLED STUDY; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; X CHROMOSOME LINKAGE;

ADULT; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; FUNDUS OCULI; GENE EXPRESSION; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; PHOTORECEPTORS; POINT MUTATION; POLYMERASE CHAIN REACTION; RETINA; RETINITIS PIGMENTOSA; TOMOGRAPHY; VISUAL FIELDS; X CHROMOSOME;

EID: 15644362762     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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