Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

American Journal of Medical Genetics

Volumn 93, Issue 3, 2000, Pages 184-187

  Van Hauwe, Peter ^a   Coucke, Paul J ^a   Ensink, Robbert J ^b   Huygen, Patrick ^b   Cremers, Cor W R J ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DFNA2; KCNQ4 mutations

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BELGIUM; CHROMOSOME 1P; CLINICAL ARTICLE; FRANCE; GENE LOCUS; HEARING LOSS; HUMAN; MISSENSE MUTATION; NETHERLANDS; PRIORITY JOURNAL; UNITED STATES;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 1; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HISTIDINE; HUMANS; KCNQ POTASSIUM CHANNELS; LEUCINE; LINKAGE (GENETICS); MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034640646     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5     Document Type: Article

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