Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Superti-Furga
A
A
Department of Pediatrics, University of Zurich, Switzerland.
Royce
P M
PM
Pistone
F M
FM
Romano
C
C
Steinmann
B
B
D002478:Cells, Cultured; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011487:Protein Conformation; D012867:Skin / Q000378:metabolism*
D003094:Collagen