Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

Human Mutation

Volumn 28, Issue 5, 2007, Pages 417-423

  Khan, Shahid Y ^a   Ahmed, Zubair M ^b   Shabbir, Muhammad I ^a   Kitajiri, Shin Ichiro ^b   Kalsoom, Saeeda ^a   Tasneem, Saba ^a   Shayiq, Sara ^b   Ramesh, Arabandi ^c,d   Srisailpathy, Srikumari ^c,d   Khan, Shaheen N ^a   Smith, Richard J H ^c   Riazuddin, Saima ^b   Friedman, Thomas B ^b   Riazuddin, Sheikh ^a  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^c UNIVERSITY OF IOWA HEALTH CARE   (United States)

^d UNIVERSITY OF MADRAS   (India)

Author keywords

Cytoskeleton; Deafness; ERM; Ezrin; Hair cells; Nonsyndromic hearing loss; Radixin; RDX; Stereocilia

Indexed keywords

COMPLEMENTARY DNA; CYTOSKELETON PROTEIN; EZRIN; MOESIN; RADIXIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 11Q; CORTI ORGAN; CYTOSKELETON; EXPRESSED SEQUENCE TAG; FAMILY STUDY; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HAIR CELL; HEARING LOSS; HUMAN; IMMUNOCYTOCHEMISTRY; INNER EAR; KNOCKOUT MOUSE; MOLECULAR CLONING; MOUSE; NEUROEPITHELIUM; NONHUMAN; NONSYNDROMIC HEARING LOSS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PAKISTAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RDX GENE; RETINA; STEREOCILIUM; VESTIBULAR SYSTEM;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; CYTOSKELETAL PROTEINS; DNA PRIMERS; EAR, INNER; EXONS; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; RETINA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34247558991     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20469     Document Type: Article

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