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. Author manuscript; available in PMC: 2016 Jan 31.
Published in final edited form as: Mol Genet Metab. 2015 Oct 26;116(4):269–274. doi: 10.1016/j.ymgme.2015.10.009

Fig. 1.

Fig. 1

Pedigree of Pakistani family with SAH hydrolase deficiency. The arrow indicates the proband (III.2). The ages provided are current ages or the age at time of death. Filled-in boxes and circles represent affected or presumably affected males and females, respectively. Half filled-in boxes represent unaffected heterozygous carriers for R49H. Unfilled boxes and circles represent unaffected family members. The amino acid present at amino acid 49 is provided (R, arginine or H, histidine) for all those in whom genomic DNA was available. (HH) indicates that the mutation was inferred in III.3 and III.4.