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Quantitation of Types I and III Collagen in Biopsy Lung Samples from Patients with Cryptogenic Fibrosing Alveolitis

✍ Scribed by Jacqueline M.E. Kirk; Brian E. Heard; Ian Kerr; Margaret Turner-Warwick; Geoffrey J. Laurent


Book ID
114179029
Publisher
Elsevier
Year
1984
Weight
926 KB
Volume
4
Category
Article
ISSN
0174-173X

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An Ξ±1 II Gly913 to Cys substitution prev
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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