Molecular characterization of Families 1 and 2.A: Linkage plot for Family 1 with major peaks of pLOD score 4 achieved, both for chr. 9 and chr. 1. x-axis represents chromosomal position, y-axis represents pLOD score. B. Sequence chromatogram from control and affected individuals from Families 1 and 2, with mutant G to T residue at position chr9:2650382 (c.2117 G > T). C. Conservation of wild-type encoded C residue across annotated vertebrate species.
Ali et al. BMC Medical Genetics 2012 13:80 doi:10.1186/1471-2350-13-80