Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C

Back to search

Article

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Human mutation - 1 Jan 1997

Hayward C, Brock D J

Abstract excerpt

Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically...

Topics

Connective Tissue Diseases
Fibrillin-1
Fibrillins
Genes
Humans
Infant, Newborn
Marfan Syndrome
Microfilament Proteins
Mutation
Polymorphism, Genetic

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.