[Mutations of genes coding collagen type I--biochemical and clinical effects].
Type I collagen is the most abundant structural protein of human body. In this paper the effects of mutations in COL1A1 and COL1A2 genes on biochemical properties of this protein and clinical manifestations are described.
Wieczorek
P
P
Katedra i Zakład Biochemii i Chemii Pomorskiej, Akademii Medycznej w Szczecinie.
Zawierta
J
J
Rzeuski
R
R
D002874:Chromosome Mapping; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
D016601:RNA-Binding Proteins; D003094:Collagen