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The Homozygous KCNQ1 Gene Mutation Associated with Recessive Romano–Ward Syndrome

✍ Scribed by TOMAS NOVOTNY; JITKA KADLECOVA; JAN JANOUSEK; RENATA GAILLYOVA; ALEXANDRA BITTNEROVA; ALENA FLORIANOVA; MARTINA SISAKOVA; ONDREJ TOMAN; KAREL CHROUST; IVO PAPOUSEK; JINDRICH SPINAR


Book ID
110105110
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
196 KB
Volume
29
Category
Article
ISSN
0147-8389

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Novel KCNQ1 mutations associated with re
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Congenital long QT syndrome may be transmitted as either an autosomal dominant or recessive trait. Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. Two dif