OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Journal of Medical Genetics

Volumn 43, Issue 7, 2006, Pages 576-581

  Varga, R ^b,c   Avenarius, M R ^d   Kelley, P M ^a,b   Keats, B J ^e   Berlin, C I ^e   Hood, L J ^e,g   Morlet, T G ^e,h   Brashears, S M ^e,h   Starr, A ^f   Cohn, E S ^b   Smith, R J H ^d   Kimberling, W J ^b  

^a BTNRH   (United States)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^e LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^h NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROTEIN OTOFERLIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HEARING LOSS; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; TEMPERATURE SENSITIVITY; VESTIBULOCOCHLEAR NERVE DISEASE;

CHILD; CHROMOSOME MAPPING; CONNEXINS; FAMILY; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; VARIATION (GENETICS);

EID: 33745907313     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.038612     Document Type: Article

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