Article
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
The Journal of clinical investigation - 1 May 1992
Dietz H C, Pyeritz R E, Puffenberger E G, Kendzior R J, Corson G M, Maslen C L, Sakai L Y, Francomano C A, Cutting G R
Abstract excerpt
To examine the associations among fibrillin gene mutations, protein function, and Marfan syndrome phenotype, we screened for alterations in the fibrillin coding sequence in patients with a range of manifestations and clinical severity. A cysteine to serine substitution at codon 1409 (C1409S) was identified in an epidermal growth factor (EGF)-like motif from one fibrillin allele which segregates with the disease...
Topics
- Amino Acid Sequence
- Base Sequence
- Consensus Sequence
- DNA
- Epidermal Growth Factor
- Fibrillins
- Humans
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data