Nucleotide sequence analysis of ALAD cDNA from the proband.

G¹⁷⁷ to C transition, producing K59N substitution, and G³⁹⁷ to A transition, producing G133R substitution. Scheme: Schematic representation of the proband's ALAD cDNA. Allele 1 has 2 base transitions, G¹⁷⁷ to C and G³⁹⁷ to A, while Allele 2 is entirely normal. Thick boxes and thin horizontal lines denote translated and untranslated regions, respectively.