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The carboxypropeptide trimer of type II collagen is a prominent component of immature cartilages and intervertebral-disc tissue

โœ Scribed by Christopher Niyibizi; Jiann-Jiu Wu; David R. Eyre


Book ID
113266549
Publisher
Elsevier Science
Year
1987
Tongue
English
Weight
639 KB
Volume
916
Category
Article
ISSN
0167-4838

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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