Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene

European Journal of Human Genetics

Volumn 7, Issue 6, 1999, Pages 724-728

  Larsen, Lars Allan ^a   Fosdal, Inger ^b   Andersen, Paal Skytt ^a   Kanters, Jørgen K ^c   Vuust, Jens ^a   Wettrell, Göran ^d   Christiansen, Michael ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b Visby Laserett ^*  (Sweden)

^c Elsinore Hospital   (Denmark)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Carrier screening; KVLQT1; Long QT syndrome; Mutation detection; Recessive Romano Ward syndrome

Indexed keywords

CARDIAC AGENT; POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG TOXICITY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HEART FAILURE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LONG QT SYNDROME; MALE; PRIORITY JOURNAL; RELATIVE; RISK; SUDDEN DEATH;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED;

RAPHIA FRATER;

EID: 0032833719     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200323     Document Type: Article

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