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. 2018 Mar 22;102(4):685–695. doi: 10.1016/j.ajhg.2018.02.012

Figure 2.

Figure 2

MRPS2 Mutation Analysis and Evolutionary Conservation of the Affected Amino Acid Residues

(A and B) Pedigree and sequencing chromatograms for (A) S1 and (B) S2 and their families, depicting the segregation of the identified recessive mutations.

(C) Interspecies alignment of the MRPS2 region containing the amino acid residues altered (depicted in bold and italics) in S1 and S2.