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
Hum Mutat
.
1997;9(1):62-3.
doi: 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N.
Authors
D W Anderson
1
,
S Thakker-Varia
,
G Tromp
,
H Kuivaniemi
,
C A Stolle
Affiliation
1
Department of Medicine, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway 08854, USA.
PMID:
8990011
DOI:
10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N
No abstract available
Publication types
Case Reports
MeSH terms
Adult
Ehlers-Danlos Syndrome / genetics*
Female
Glycine / genetics*
Hot Temperature
Humans
Procollagen / genetics
Procollagen / metabolism*
Serine / genetics*
Substances
Procollagen
Serine
Glycine