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. Author manuscript; available in PMC: 2013 Aug 1.
Published in final edited form as: Osteoporos Int. 2013 Feb 27;24(8):2253–2259. doi: 10.1007/s00198-013-2290-0

Table 4.

Screening for mutations in individuals not previously tested.

Subject Phenotype Gene Genbank mRNA and CCDS ID Mutation (cDNA) Mutation (protein) Zygosity of mutation
7 OI type IV COL1A2 NM_000089.3, CCDS34682 c.3938T>C p.Leu1313Pro Heterozygous
8 OI type III COL1A1 NM_000088.3, CCDS11561 c.3118G>A p.Gly1040Ser Heterozygous
9 OI COL1A1 NM_000088.3, CCDS11561 c.3505G>A p.Gly1169Ser Heterozygous
10 Osteopetrosis CLCN7 NM_001287.5, CCDS32361 c.856C>T p.Arg286Trp Heterozygous
11 Dysosteosclerosis No pathogenic mutation identified. This patient also had Sanger sequencing for SLC29A3 [21].