A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
Anderson
D W
DW
Department of Medicine, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway 08854, USA.
Thakker-Varia
S
S
Tromp
G
G
Kuivaniemi
H
H
Stolle
C A
CA
D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006358:Hot Temperature; D006801:Humans; D011347:Procollagen / Q000235:genetics / Q000378:metabolism*; D012694:Serine / Q000235:genetics*
D011347:Procollagen; D012694:Serine; D005998:Glycine