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
[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis].
Feng XL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
Fibrillin-1, a calcium binding protein of extracellular matrix.
Handford PA
Biochimica Et Biophysica Acta, 2000
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
McGettrick AJ et al.
Human Molecular Genetics, 2000
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.
Reinhardt DP et al.
The Journal of Biological Chemistry, 2000
EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1.
Smallridge RS et al.
Journal of Molecular Biology, 1999
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G et al.
Nucleic Acids Research, 1998
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C et al.
Human Mutation, 1997
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