Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families wi...

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Veröffentlicht in:Human genetics 2000-11, Vol.107 (5), p.499-503
Hauptverfasser: TYSON, Jessica, TRANEBJAERG, Lisbeth, PEMBREY, Marcus E, MALCOLM, Sue, BITNER-GLINDZICZ, Maria, MCENTAGART, Meriel, LARSEN, Lars A, CHRISTIANSEN, Michael, WHITEFORD, Margo L, BATHEN, Jørn, ASLAKSEN, Bjørn, SØRLAND, Svein Jan, LUND, Ole
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Sprache:eng
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