Recessive mutations of TMC1 associated with moderate to severe hearing loss

Neurogenetics

Volumn 17, Issue 2, 2016, Pages 115-123

  Imtiaz, Ayesha ^a,b   Maqsood, Azra ^a   Rehman, Atteeq U ^b   Morell, Robert J ^b   Holt, Jeffrey R ^c   Friedman, Thomas B ^b   Naz, Sadaf ^a  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

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

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

DFNB7 11; Mechanosensory transduction; Moderate or severe hearing loss; TMC1

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; GENOMIC DNA; PROTEIN; TMC1 PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; TMC1 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; LOSS OF FUNCTION MUTATION; MECHANOTRANSDUCTION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TMC1 GENE; ADOLESCENT; CHILD; GENETICS; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE; YOUNG ADULT;

ADOLESCENT; CHILD; GENES, RECESSIVE; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; PEDIGREE; YOUNG ADULT;

EID: 84958092842     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-016-0477-1     Document Type: Article

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