A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 1017-1025

  Sanggaard, Kirsten M ^a,b   Kjaer, Klaus W ^a   Eiberg, Hans ^c   Nürnberg, Gudrun ^d,e   Nürnberg, Peter ^d,f   Hoffman, Katrin ^g   Jensen, Hanne ^h   Sørum, Charlotte ^b   Rendtorff, Nanna D ^a   Tranebjærg, Lisbeth ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b BISPEBJERG HOSPITAL   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY OF COLOGNE   (Germany)

^e German Genome Resource Center RZPD   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g HUMBOLDT UNIVERSITY   (Germany)

^h JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Genome linkage; MYO6; Nonsyndromic hearing loss; Unconventional myosins

Indexed keywords

MYOSIN VI; MYOSIN HEAVY CHAIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 6Q; CLINICAL ARTICLE; CONTROLLED STUDY; DENMARK; FAMILY; GENE LOCUS; GENETIC CODE; GENETIC LINKAGE; HEARING LOSS; HUMAN; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; AMINO ACID SEQUENCE; CHEMISTRY; CHROMOSOME 6; DNA SEQUENCE; DOMINANT GENE; GENETICS; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; CODON, NONSENSE; DENMARK; FAMILY; GENES, DOMINANT; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MYOSIN HEAVY CHAINS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 42949161087     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32174     Document Type: Article

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