Article
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Nature genetics - 1 Jan 1994
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L
Abstract excerpt
Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly different phenotypes....
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- Ectopia Lentis
- Female
- Fibrillin-1
- Fibrillins
- Genes, Dominant
- Humans
- Infant, Newborn
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Mutation