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.
Richards
A J
AJ
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex, UK.
Narcisi
P
P
Ferguson
C
C
Cobben
J M
JM
Pope
F M
FM
D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D017931:DNA Primers; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012016:Reference Values
D017931:DNA Primers; D003094:Collagen