Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients

Neuroscience Letters

Volumn 500, Issue 1, 2011, Pages 16-19

  Gan, De Kang ^a   He, Chen Liang ^b   Shu, Hai Rong ^c   Hoffman, Matthew R ^d   Jin, Zi Bing ^e  

^a EYE AND ENT HOSPITAL OF FUDAN UNIVERSITY   (China)

^b TONGDE HOSPITAL OF ZHEJIANG PROVINCE   (China)

^c TAIZHOU UNIVERSITY   (China)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

Genetic mutation; Retina; Retinitis pigmentosa; RPGR

Indexed keywords

CYTOSKELETON PROTEIN; GENOMIC DNA; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; EARLY DIAGNOSIS; EXON; FAMILY STUDY; FEMALE; FETUS; GENE DELETION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REGULATOR GENE; RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR GENE; X CHROMOSOME LINKED DISORDER;

CODON, NONSENSE; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HUMANS; MALE; OPEN READING FRAMES; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; RETINITIS PIGMENTOSA;

EID: 79960307303     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.05.234     Document Type: Article

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