Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Mutations identified in the fibrillin-1 (FBN1) gene have been associated with Marfan syndrome (MFS). Molecular analysis of the gene is classically performed in probands with MFS to offer diagnosis for at-risk relatives and in children highly suspected of MFS. However, FBN1 gene mutations are found i...

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Bibliografski detalji
Glavni autori: Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Buyck, Jean François, Gouya, Laurent, Le Parc, Jean-Marie, Moura, Bertrand, Muti, Christine, Grandchamp, Bernard, Sultan, Gilles, Claustres, Mireille, Aegerter, Philippe, Chevallier, Bertrand, Jondeau, Guillaume, Boileau, Catherine
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986588/
https://ncbi.nlm.nih.gov/pubmed/19293843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.36
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