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. Author manuscript; available in PMC: 2017 Feb 15.
Published in final edited form as: J Bone Miner Res. 2015 Aug 6;31(1):163–172. doi: 10.1002/jbmr.2590

Figure 4. RELA Mutation.

Figure 4

(A) Electropherograms of forward and reverse DNA sequence show the variant of the patient and the forward DNA sequence of his parents. The c.1534_1535delinsAG variant is indicated with an arrow.

(B) Normal and proband cDNA sequence (as codons) and amino acid sequence show the identified mutation RELA p.Asp512Ser (the altered nucleotide and amino acid changes are in bold and underlined).