Marfan syndrome, new mutations of the FBN1 gene = Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1

Marfan syndrome, new mutations of the FBN1 gene = Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1

Introduction: Marfan syndrome (SM) is a systemic disorder caused by mutations in the extracellular matrix protein fibrillin 1 (FBN1). With a dominant autosomal pattern, penetrance near 100% and variable expressivity. It has an incidence of 2-3 cases per 10.000 individuals; the patients are character...

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Bibliographic Details
Main Authors: Sebastian Muñoz, Juan, Saldarriaga Gil, Wilmar, Isaza de Lourido, Carolina
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2014-04-01
Series:Iatreia
Subjects:
Marfan syndrome
Codon nonsense
FBN1
Driver mutations
Codón sin Sentido
Fibrilina
Mutaciones Modificadoras
Nosología de Ghent
Síndrome de Marfan
Online Access:http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/15650/16199

Internet

http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/15650/16199

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