A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 6-10

  Tekin, Mustafa ^a,c   Akcayoz, Duygu ^a   Incesulu, Armagan ^b  

^a ANKARA UNIVERSITY   (Turkey)

^b Social Security Hospital   (Turkey)

^c Birlik Mahallesi   (Turkey)

Author keywords

Auditory neuropathy; Autosomal recessive; Deafness; Hearing loss; OTOF

Indexed keywords

DNA; LEUCINE; OTOFERLIN; UNCLASSIFIED DRUG;

ARTICLE; AUDIOGRAPHY; AUTOSOMAL RECESSIVE AUDITORY NEUROPATHY; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; OTOACOUSTIC EMISSION; OTOF GENE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DOMAIN; PURE TONE AUDIOMETRY; SENSORY NEUROPATHY; TURKEY (REPUBLIC);

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE HOMOLOGY, AMINO ACID; TURKEY;

EID: 24344458436     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30907     Document Type: Article

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