Retinal phenotype of an x-linked pseudo-usher syndrome in association with the g173r mutation in the rpgr gene

Advances in Experimental Medicine and Biology

Volumn 613, Issue , 2008, Pages 221-227

  Iannaccone, Alessandro ^a   Othman, Mohammad I ^b   Cantrell, April D ^b   Jennings, Barbara J ^b   Branham, Kari ^b   Swaroop, Anand ^b  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEARING LOSS; HUMAN; MALE; MISSENSE MUTATION; OTITIS MEDIA; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA GTPASE REGULATOR GENE; SCHOOL CHILD; UPPER RESPIRATORY TRACT INFECTION; X LINKED PSEUDO USHER SYNDROME; ARTICLE; COMPARATIVE STUDY; ELECTRORETINOGRAPHY; GENETICS; HETEROZYGOTE; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PERCEPTION DEAFNESS; RESPIRATORY TRACT INFECTION; RETINA; USHER SYNDROME; X CHROMOSOME LINKED DISORDER;

ARGININE; EYE PROTEIN; RPGR PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARGININE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; OTITIS MEDIA; PEDIGREE; PHENOTYPE; RESPIRATORY TRACT INFECTIONS; RETINA; RETINITIS PIGMENTOSA; USHER SYNDROMES;

EID: 38949157800     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-74904-4_25     Document Type: Conference Paper

References (18)

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