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Electropherograms of the three FLVCR1 missense mutations in families with PCARP
(A and B) Sanger sequencing confirms the homozygous c.361A>G (p.Asn121Asp) mutation in the American family.
(C–F) Sanger sequencing of FLVCR1 shows a homozygous c.721G>A (p.Ala241Thr) mutation in a Spanish family (C and D) and a homozygous c.574T>C (p.Cys192Arg) mutation in a French Canadian family (E and F). The arrows indicate the base pair substitution. The amino acid symbols are above the codon.
