FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
Author:
Funder
National Institutes of Health
Fund for Scientific Research, Flanders
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference126 articles.
1. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations;Adѐs;Am. J. Med. Genet.,2002
2. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis;Ahram;Am. J. Hum. Genet.,2009
3. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele;Aubart;Hum. Mol. Genet.,2015
4. A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1, fibrillin-2, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module;Bader;Matrix Biol.,2012
5. The supramolecular organization of fibrillin-rich microfibrils;Baldock;J. Cell Biol.,2001
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