X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

Ophthalmology

Volumn 105, Issue 12, 1998, Pages 2286-2296

  Fishman, Gerald A ^a,f   Grower, Sandeep ^a   Jacobson, Samuel G ^b   Alexander, Kenneth R ^a   Derlacki, Deborah J ^a   Wu, Weiping ^c   Buraczynska, Monika ^e   Swaroop, Anand ^c,d  

^a UNIVERSITY OF ILLINOIS   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^f University of Illinois Chicago   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; GUANOSINE TRIPHOSPHATASE; VALINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; EYE FUNDUS; FAMILIAL DISEASE; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; VISUAL FIELD DEFECT; X CHROMOSOME LINKED DISORDER;

EID: 0032471757     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(98)91231-3     Document Type: Article

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