Loss of Ca v 1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Nature Neuroscience

Volumn 14, Issue 1, 2011, Pages 77-86

  Baig, Shahid M ^a   Koschak, Alexandra ^b   Lieb, Andreas ^b   Gebhart, Mathias ^b   Dafinger, Claudia ^c   Nürnberg, Gudrun ^d   Ali, Amjad ^a   Ahmad, Ilyas ^a   Sinnegger Brauns, Martina J ^b   Brandt, Niels ^e,f   Engel, Jutta ^e,f   Mangoni, Matteo E ^g   Farooq, Muhammad ^a   Khan, Habib U ^h   Nürnberg, Peter ^d,i   Striessnig, Jörg ^b   Bolz, Hanno J ^c,j  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^f SAARLAND UNIVERSITY   (Germany)

^g INSTITUT DE GÉNOMIQUE FONCTIONNELLE   (France)

^h KHYBER TEACHING HOSPITAL   (Pakistan)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j Bioscientia Center for Human Genetics   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; GLYCINE;

ARTICLE; BRADYCARDIA; CARDIAC CHANNELOPATHY; CONGENITAL DEAFNESS; CONSANGUINEOUS MARRIAGE; EXON; FAMILY; GENE INSERTION; GENE MUTATION; HUMAN; NANOPORE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SANDD SYNDROME;

EID: 78650676678     PISSN: 10976256     EISSN: None     Source Type: Journal    
DOI: 10.1038/nn.2694     Document Type: Article

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