Associated Papers
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J et al.
Journal of Medical Genetics, 2002
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.
Karttunen L et al.
Human Mutation, 1998
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