Article
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.
European journal of biochemistry - 15 Aug 1998
Gibson M A, Ellis S L, Ades L C, Haan E, Cleary E G
Abstract excerpt
A heterozygous deletion of a single base (A4704) from exon 37 of the fibrillin-1 gene was defined in a patient with Marfan syndrome and subsequently in his previously undiagnosed father. The deletion created a cryptic 5' splice site in exon 37 which was utilised in preference to the normal 5' spl...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- Exons
- Fibrillin-1
- Fibrillins
- Fibroblasts
- Gene Amplification
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Mutation
- RNA Precursors
- RNA Splicing
- RNA, Messenger
- Sequence Deletion