Figure 3
From: Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report
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.