Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: Evidence for variable hearing phenotype associated with R518X

Human mutation

Volumn 15, Issue 4, 2000, Pages 387-388

  Wei, Jian ^a   Fish, Frank A ^a   Myerburg, Robert J ^c   Roden, Dan M ^a,b   George, Alfred L ^a,b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ; POTASSIUM CHANNEL KCNQ1; VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DOMINANT GENE; FEMALE; FRAMESHIFT MUTATION; GENETICS; HEARING; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RECESSIVE GENE;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENES, RECESSIVE; HEARING; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 0034164591     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T     Document Type: Article

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