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Volumn 41, Issue 1, 2004, Pages
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A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.
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Author keywords
[No Author keywords available]
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Indexed keywords
COCH PROTEIN, HUMAN;
PEPTIDE;
PROTEIN;
VALINE;
ADULT;
AGED;
AMINO ACID SEQUENCE;
ARTICLE;
CHEMICAL STRUCTURE;
CHEMISTRY;
DOMINANT GENE;
FEMALE;
GENE DELETION;
GENETICS;
HUMAN;
MALE;
MIDDLE AGED;
MOLECULAR GENETICS;
ONSET AGE;
PERCEPTION DEAFNESS;
POINT MUTATION;
PROTEIN FOLDING;
PROTEIN TERTIARY STRUCTURE;
ADULT;
AGE OF ONSET;
AGED;
AGED, 80 AND OVER;
AMINO ACID SEQUENCE;
FEMALE;
GENES, DOMINANT;
HEARING LOSS, SENSORINEURAL;
HUMANS;
MALE;
MIDDLE AGED;
MODELS, MOLECULAR;
MOLECULAR SEQUENCE DATA;
PEPTIDES;
POINT MUTATION;
PROTEIN FOLDING;
PROTEIN STRUCTURE, TERTIARY;
PROTEINS;
SEQUENCE DELETION;
VALINE;
MLCS;
MLOWN;
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EID: 1442308472
PISSN: None
EISSN: 14686244
Source Type: Journal
DOI: 10.1136/jmg.2003.012286 Document Type: Article |
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Times cited : (37)
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References (0)
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