Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Fahim, Abigail T ^a   Bowne, Sara J ^a   Sullivan, Lori S ^a   Webb, Kaylie D ^b   Williams, Jessica T ^a   Wheaton, Dianna K ^b,c   Birch, David G ^b,c   Daiger, Stephen P ^a  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GENOMIC DNA; PROTEIN CEP290; PROTEIN IQCB1; PROTEIN RPGRIP1; PROTEIN RPGRIP1L; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR; UNCLASSIFIED DRUG; CALMODULIN BINDING PROTEIN; CEP290 PROTEIN, HUMAN; EYE PROTEIN; IQCB1 PROTEIN, HUMAN; PROTEIN; RPGR PROTEIN, HUMAN; RPGRIP1 PROTEIN, HUMAN; RPGRIP1L PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN; TUMOR PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA MODIFICATION; EXON; FAMILY; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONSENSE MUTATION; NULL ALLELE; OPEN READING FRAME; PHENOTYPIC VARIATION; PROTEIN PROTEIN INTERACTION; PROTEIN VARIANT; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; X CHROMOSOME LINKED DISORDER; X LINKED RETINITIS PIGMENTOSA; ALLELE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HOSPITALIZATION; MODIFIER GENE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; ANTIGENS, NEOPLASM; CALMODULIN-BINDING PROTEINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENES, MODIFIER; GENETIC DISEASES, X-LINKED; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RETINITIS PIGMENTOSA; SEVERITY OF ILLNESS INDEX;

EID: 80051618338     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0023021     Document Type: Article

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