Fig. 5From: Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected familyA The missense mutation (c.3304G > C) in the COL1A2 gene (NM_000089.4) results in replacement of glycine by a highly conserved arginine (p.G1102R); B The nonsense mutation (c.4108G > T) in the FBN2 gene (NM_001999.4) results in the premature termination of transcription (p.E1370*)Back to article page