Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

Taylor, Alison; Wang, D; Patel, Kavisha; Whittall, Ros; M Wood, G; J. Farrer, Matthew; Neely, Rdg; Fairgrieve, Susan; Nair, D.R.; Barbir, Mahmoud; Jones, JL; J. Egan, Sarah; Everdale, R; Lolin, Yvette; James Hughes, Emmett; Cooper, JA; G. Hadfield, S.; Norbury, Gail; E. Humphries, Steve

doi:10.1111/j.1399-0004.2009.01356.x

Public

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

Published in Clinical Genetics • Dec 2, 2009

Authors:

Alison Taylor

D Wang

Kavisha Patel

Abstract

Cascade testing using DNA-mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty-five proban...

Subject

Multiplex ligation-dependent probe amplification

Molecular biology

Multiplex

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