A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 361-366

  De Kok, Yvette J M ^a   Bom, Steven J H ^a   Brunt, Tibor M ^a   Kemperman, Martijn H ^a   Van Beusekom, Ellen ^a   Van Der Velde Visser, Saskia D ^a   Robertson, Nahid G ^b   Morton, Cynthia C ^b   Huygen, Patrick L M ^a   Verhagen, Wim I M ^c   Brunner, Han G ^a   Cremers, Cor W R J ^a   Cremers, Frans P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c CANISIUS WILHELMINA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PROLINE; SCLEROPROTEIN; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14Q; CLINICAL ARTICLE; GENE MUTATION; HUMAN; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; VESTIBULAR DISORDER;

AGE OF ONSET; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PEDIGREE; POINT MUTATION; PROLINE; PROTEINS; SERINE; VESTIBULAR DISEASES;

EID: 0032929077     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.361     Document Type: Article

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