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Rare cases of collagen VI related myopathies with phenotypes of intermediate severity have been reported. [28] Whole genome sequencing reveals that these intermediate phenotypes most likely result from a premature translation termination codon caused by a variation in the COL6A3 gene , as well as an amino acid substitution in the N2-terminal ...
Collagen alpha-1(XIII) chain is a protein that in humans is encoded by the COL13A1 gene. [5]This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues.
The N-terminal telopeptide (NTX), also known as amino-terminal collagen crosslinks, is the N-terminal telopeptide of fibrillar collagens such as collagen type I and type II. It is used as a biomarker to measure the rate of bone turnover. NTX can be measured in the urine (uNTX) or serum (serum NTX). [1]
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