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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Human mutation - 1 Sept 2011

Baetens Machteld, Van Laer Lut, De Leeneer Kim, Hellemans Jan, De Schrijver Joachim, Van De Voorde Hendrik, Renard Marjolijn, Dietz Hal, Lacro Ronald V, Menten Björn, Van Criekinge Wim, De Backer Julie, De Paepe Anne, Loeys Bart, Coucke Paul J

Abstract excerpt

The Marfan (MFS) and Loeys-Dietz (LDS) syndromes are caused by mutations in the fibrillin-1 (FBN1) and Transforming Growth Factor Beta Receptor 1 and 2 (TGFBR1 and TGFBR2) genes, respectively. With the current conventional mutation screening technologies, analysis of this set of genes is time consuming and expensive. We have tailored a cost-effective and reliable mutation discovery strategy using multiplex PCR...

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Identifiers

PMID: 21542060
DOI: 10.1002/humu.21525

Genes

FBN1
TGFBR1
TGFBR2

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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.PMID 21542060Read ↗

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