Amino acid 572 in TMC1: Hot spot or critical functional residue for dominant mutations causing hearing impairment

Journal of Human Genetics

Volumn 54, Issue 3, 2009, Pages 188-190

  Hilgert, Nele ^a   Monahan, Kelly ^b   Kurima, Kiyoto ^b   Li, Cindy ^c   Friedman, Rick A ^c   Griffith, Andrew J ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

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

^c HOUSE EAR INSTITUTE   (United States)

Author keywords

D527N; DFNA36; Hereditary hearing loss; Hot spot; TMC1

Indexed keywords

AMINO ACID; NUCLEOTIDE; MEMBRANE PROTEIN; MICROSATELLITE DNA; TMC1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; COMPARATIVE STUDY; CONTROLLED STUDY; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MALE; MISSENSE MUTATION; NORTH AMERICA; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; TMC1 GENE; CHROMOSOME SEGREGATION; DOMINANT GENE; GENETICS; MUTATION; PEDIGREE; PHENOTYPE;

AMINO ACIDS; CHROMOSOME SEGREGATION; FAMILY; FEMALE; GENES, DOMINANT; HAPLOTYPES; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 63149141393     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.1     Document Type: Article

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