Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV
Hum Mol Genet
.
1994 Oct;3(10):1901-2.
doi: 10.1093/hmg/3.10.1901.
Authors
A J Richards
1
,
P Narcisi
,
C Ferguson
,
J M Cobben
,
F M Pope
Affiliation
1
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex, UK.
PMID:
7849722
DOI:
10.1093/hmg/3.10.1901
No abstract available
Publication types
Comparative Study
MeSH terms
Base Sequence
Collagen / genetics*
DNA Primers
Ehlers-Danlos Syndrome / genetics*
Exons*
Female
Humans
Introns
Male
Molecular Sequence Data
Mutation*
Pedigree
Polymerase Chain Reaction
RNA Splicing*
Reference Values
Substances
DNA Primers
Collagen