Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 237-243

  Choi, B Y ^a   Ahmed, Z M ^a   Riazuddin, S ^a,b   Bhinder, M A ^b   Shahzad, M ^b   Husnain, T ^b   Griffith, A J ^a   Friedman, Thomas B ^a  

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

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

Author keywords

DFNB9; Hearing; OTOF; Otoferlin

Indexed keywords

GENE PRODUCT; OTOFERLIN; PROTEIN DFNB9; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; INNER EAR; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; COCHLEA; DEAFNESS; EXONS; GENE FREQUENCY; GENES, RECESSIVE; GENETIC VARIATION; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; PROTEIN ISOFORMS;

EID: 60549087171     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01128.x     Document Type: Article

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