A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

American Journal of Human Genetics

Volumn 91, Issue 4, 2012, Pages 636-645

  Schrauwen, Isabelle ^a   Helfmann, Sarah ^b   Inagaki, Akira ^c   Predoehl, Friederike ^b   Tabatabaiefar, Mohammad Amin ^d,e   Picher, Maria Magdalena ^b   Sommen, Manou ^a   Seco, Celia Zazo ^f,g,h   Oostrik, Jaap ^f,g,h   Kremer, Hannie ^f,g,h   Dheedene, Annelies ⁱ   Claes, Charlotte ^a   Fransen, Erik ^a   Chaleshtori, Morteza Hashemzadeh ^e   Coucke, Paul ⁱ   Lee, Amy ^c   Moser, Tobias ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^c UNIVERSITY OF IOWA   (United States)

^d AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g RADBOUD UNIVERSITY   (Netherlands)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL 1.3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CABP2 GENE; CALCIUM BINDING; CALCIUM CURRENT; COCHLEA; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA SEQUENCE; EXON SKIPPING; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HAIR CELL; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; IRAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SPLICE SITE MUTATION; USHER SYNDROME;

CALCIUM; CALCIUM-BINDING PROTEINS; CHROMOSOME DISORDERS; COCHLEA; CONSANGUINITY; EXONS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HAIR CELLS, AUDITORY; HEARING LOSS; HEK293 CELLS; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 84867267589     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.018     Document Type: Article

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