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Platelet adhesion to type III collagen: Involvement of a sequence of nine aminoacids from α1(III)CB4 peptide

✍ Scribed by F. Fauvel; Y.J. Legrand; K. Kühn; H. Bentz; P.P. Fietzek; J.P. Caen


Book ID
119034116
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
300 KB
Volume
16
Category
Article
ISSN
0049-3848

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A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single nucleotide transition of G3285T that resulted in an amino acid substitution of Cys for Gly9I3 in the al(I1) chain of type I1 collagen. This amino acid change disrupted the obliga