Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

Clinical Genetics

Volumn 72, Issue 6, 2007, Pages 546-550

  Kitajiri, A I ^a   McNamara, R ^a   Makishima, T ^a   Husnain, T ^b   Zafar, A U ^b   Kittles, R A ^c   Ahmed, Z M ^a   Friedman, T B ^a   Riazuddin, S ^b   Griffith, Andrew J ^a,d  

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

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c UNIVERSITY OF CHICAGO   (United States)

^d University of Texas Medical Branch School of Medicine   (United States)

Author keywords

Deafness; Epidemiology; Founder; Genetic; Hearing; Mutation; Recessive; TMC1

Indexed keywords

MEMBRANE PROTEIN; PROTEIN TMC1; TRANSMEMBRANE CHANNEL LIKE PROTEIN 1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY; GENE LOCUS; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PAKISTAN; PRIORITY JOURNAL; SCREENING; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 9; CODON, NONSENSE; DEAFNESS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 36248940280     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00895.x     Document Type: Article

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