Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
Tromp
G
G
Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
De Paepe
A
A
Nuytinck
L
L
Madhatheri
S
S
Kuivaniemi
H
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003062:Codon; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000145:classification / Q000235:genetics*; D014633:Valine
D003062:Codon; D018076:DNA, Complementary; D011347:Procollagen; D014633:Valine; D005998:Glycine