Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

doi:10.1038/352337a0

Article

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Nature - 25 Jul 1991

Dietz H C, Cutting G R, Pyeritz R E, Maslen C L, Sakai L Y, Corson G M, Puffenberger E G, Hamosh A, Nanthakumar E J, Curristin S M

Abstract excerpt

Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability. Linkage studies have mapped the Marfan locus to chromosome 15q15-21.3. Th...

Topics

Adult
Amino Acid Sequence
Base Sequence
Fibrillins
Humans
Marfan Syndrome
Microfilament Proteins
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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