A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family

Molecular Vision

Volumn 13, Issue , 2007, Pages 1548-1554

  Chang, Wei ^a   Ding, Qianbin ^b   Tang, Zhaohui ^a   Liu, Ping ^a   Jiang, Fagang ^a   Ke, Tie ^a   Ren, Xiang ^a   Wang, Zhi ^a   Liu, Jingyu ^a   Wang, Qing K ^a,c   Liu, Mugen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b People's Hospital Tiantai   (China)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CHROMOSOME MARKER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMIZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; INTRON; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, X; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; OPEN READING FRAMES; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 34548441071     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

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