Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

doi:10.1093/hmg/4.4.607

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Article

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

Human molecular genetics - 1 Apr 1995

Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen M N, DePaepe A, Godfrey M

Abstract excerpt

The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue. Variable and pleiotropic clinical features are observed in the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum of this disorder comprises a group of patients us...

Topics

Alleles
Base Sequence
DNA Primers
DNA, Complementary
Exons
Fibrillin-1
Fibrillins
Fluorescent Antibody Technique
Humans
Infant, Newborn
Marfan Syndrome
Microfilament Proteins
Molecular Sequence Data
RNA Splicing

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