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Abnormal type 1 and type III collagen production is responsible for abnormalities of wound healing in DEB patients

✍ Scribed by S. Ding Li; J. H. Wang; C. Hui Li; H. P. Redmond


Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
234 KB
Volume
174
Category
Article
ISSN
1863-4362

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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