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Identification of a Mutation in YARS2 Associated with MLASA
(A) Pedigree of the family used for homozygosity mapping.
(B) DNA sequence identifying the c.156C>G (p.F52L) YARS2 mutation.
(C) Schematic diagram of YARS2 domains showing location of the variant F52 residue and its conservation among species. The following abbreviations are used: MTS, mitochondrial targeting sequence; catalytic, catalytic domain; ACB, anticodon binding domain; and S4-like, S4 ribosomal protein-like domain.
