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C-Terminal Deletions in ALAS2 Cause X-Linked Dominant Protoporphyria
(A) Sequence analysis of genomic DNA from male patients showing deletions in the ALAS2 gene.
(B) Predicted effects of deletions on ALAS2 C-terminal sequences.
(C–E) Prokaryotic expression of wild-type and mutant ALAS2 enzymes: Rates of formation of ALA (C) and porphyrin (D) by bacterial lysates; means and ranges for three experiments are shown. (E) Porphyrin fluorescence (UVA light) in bacterial pellets.
