Jervell and Lange-Nielsen syndrome: Novel compound heterozygous mutations in the KCNQ1 in a Korean family

Journal of Korean Medical Science

Volumn 25, Issue 10, 2010, Pages 1522-1525

  Baek, Jae Suk ^a   Bae, Eun Jung ^a   Lee, Sang Yun ^a   Park, Sung Sup ^a   Kim, So Yeon ^a   Jung, Kyu Nam ^a   Noh, Chung Il ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

Congenital long QT syndrome; Deafness; Mutation

Indexed keywords

POTASSIUM CHANNEL KCNQ1;

ARTICLE; ASIAN; CASE REPORT; ELECTROCARDIOGRAPHY; EXON; FAMILY; GENE DELETION; GENETICS; HETEROZYGOTE; HUMAN; LONG QT SYNDROME; MALE; MUTATION; PEDIGREE; PRESCHOOL CHILD; SOUTH KOREA;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; ELECTROCARDIOGRAPHY; EXONS; FAMILY; GENE DELETION; HETEROZYGOTE; HUMANS; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; REPUBLIC OF KOREA;

EID: 78449302375     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.10.1522     Document Type: Article

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