Fig. 2
a A hemizygous mutation (c.611G>A; p.R204Q) in the proband with XLSA. b The proband’ son had no mutation at C.611. c The proband’ daughter harbored a heterozygous mutation (c.611G>A; p.R204Q)
Fig. 2 | BMC Medical Genomics
a A hemizygous mutation (c.611G>A; p.R204Q) in the proband with XLSA. b The proband’ son had no mutation at C.611. c The proband’ daughter harbored a heterozygous mutation (c.611G>A; p.R204Q)