Fig. 2.
Nucleotide sequence of FECH cDNA derived from direct sequencing of PCR products of index patient of family III.
Note triple mutation: T →A at nucleotide 1224, C →T at nucleotide 1225, and T →G at nucleotide 1231. These 3 mutations lead to a FECH variant with N408K, P409S, and C411G.