The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index...

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Hlavní autoři: Hilhorst-Hofstee, Yvonne, Rijlaarsdam, Marry EB, Scholte, Arthur JHA, Swart-van den Berg, Marietta, Versteegh, Michel IM, van der Schoot-van Velzen, Iris, Schäbitz, Hans-Joachim, Bijlsma, Emilia K, Baars, Marieke J, Kerstjens-Frederikse, Wilhelmina S, Giltay, Jacques C, Hamel, Ben C, Breuning, Martijn H, Pals, Gerard
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley Subscription Services, Inc., A Wiley Company 2010
Témata:
Mutation in Brief
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3051827/
https://ncbi.nlm.nih.gov/pubmed/20886638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21372
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