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. 2013 Feb 1;7:35. doi: 10.1186/1752-1947-7-35

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Copyright ©2013 Kashizaki et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Type III collagen production capacity and analysis of the COL3A1 gene. (a) Type III collagen production capacity: the patient (P) showed decreased expression of [α1(III)] 3 compared with the normal control (N). The production of type III/type I collagen was 14.7% of the normal value. (b) Analysis of the COL3A1 gene: a heterozygous missense mutation characterized by GGC(Gly)→GTC(Val) was found at c. 2411 (c.2411 G>T p.Gly804Val (exon 36)). α1(I), α1 chain of type I collagen; α2(I), α2 chain of type I collagen; Gly, glycine; Glu, glutamic acid; Arg, arginine; Thr, threonine; Pro, proline; Ala, alanine.