Fig. 3From: Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1Genetic sequence of COL5A1 mutation. Genetic studies revealed a novel frameshift mutation in exon 54. This mutation replaces glutamine (Q) with arginine (R) and the following amino acid codons. ★, amino acids are represented by the letters used in the international nomenclatureBack to article page