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. Author manuscript; available in PMC: 2013 Nov 1.
Published in final edited form as: Hum Mutat. 2012 Jul 16;33(11):1589–1598. doi: 10.1002/humu.22139

Figure 1.

Figure 1

Extended Palestinian pedigree with Types IX and XI OI. Pedigree of extended Palestinian family members, including probands 1–9, with a history of lethal OI in one branch of the family (probands 1–4) and moderately severe OI (probands 5–9) in another branch. Proband 2 is a heterozygous carrier of a PPIB c.563_566delACAG mutation in exon 5 of the gene. A HpaII restriction enzyme digest confirms that parents 1 and 2 are both carriers and unaffected siblings 3 and 4 are not carriers of the PPIB mutation. Proband 9 has a homozygous FKBP10 c.1271_1272delCCinsA mutation, leading directly to a PTC and a null allele. This mutation was confirmed to be heterozygous in parents 5 and 6 and unaffected sibling 8 by AvaII restriction enzyme digestion.