Fig. 2
From: Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease
A heterozygous missense mutation identified in a proband, her father, and her daughter. A heterozygous C to T transition (arrow) is shown at position 2227 in exon 23 of the chloride channel 7 gene, replacing an arginine with a tryptophan, with substitution at codon position 743 (NM_001114331.2 [CLCN7]: c.2227C > T, p.Arg743Trp). 3.4 = proband, 1.2 = father, 2.3 = daughter