Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
- 1 January 1994
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 6 (1) , 64-69
- https://doi.org/10.1038/ng0194-64
Abstract
No abstract availableKeywords
This publication has 33 references indexed in Scilit:
- A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like moduleHuman Molecular Genetics, 1993
- Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.Journal of Clinical Investigation, 1992
- Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1Genomics, 1991
- PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA.Genome Research, 1991
- Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.Journal of Medical Genetics, 1991
- Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a β-OH Asp 64→Asn changeBritish Journal of Haematology, 1991
- A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein EGenomics, 1990
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Probable Homozygotic Form of the Marfan Syndrome in a Newborn ChildActa Paediatrica, 1988
- The Marfan Syndrome: Diagnosis and ManagementNew England Journal of Medicine, 1979