Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Nature Genetics

Volumn 23, Issue 4, 1999, Pages 413-419

  McGuirt, Wyman T ^a   Prasad, Sai D ^a   Griffith, Andrew J ^b   Kunst, Henricus P M ^c   Green, Glenn E ^a   Shpargel, Karl B ^b   Runge, Christina ^a   Huybrechts, Christy ^h   Mueller, Robert F ^d   Lynch, Eric ^e   King, Mary Claire ^e   Brunner, Han G ^c   Cremers, Cor W R J ^c   Takanosu, Masamine ^f   Li, Shi Wu ^g   Arita, Machiko ^g   Mayne, Richard ^f   Prockop, Darwin J ^g   Van Camp, Guy ^h   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA   (United States)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 6P; COCHLEA DUCT; CONGENITAL DEAFNESS; CONTROLLED STUDY; ELECTRON MICROSCOPY; FAMILIAL DISEASE; FEMALE; GENE DISRUPTION; GENE MUTATION; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; MOUSE; NETHERLANDS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRANSGENIC MOUSE; TRIPLE HELIX; UNITED STATES;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; COLLAGEN; DISEASE MODELS, ANIMAL; DNA; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; IN SITU HYBRIDIZATION; MALE; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

ANIMALIA; MUS MUSCULUS;

EID: 0032755733     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/70516     Document Type: Article

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