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Fig. 1 | Molecular Medicine

Fig. 1

From: Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)

Fig. 1

Partial sequencing gels showing novel mutations in the HMB-synthase gene from Spanish AIP probands. (A) An A-to-G transition of cDNA nt 634 in exon 11 predicts a methionine-to-valine substitution at residue 212 (M212V). (B) An insertion of a T after genomic nt g4715 in exon 7 results in a frame-shift mutation that predicts a stop at codon 121 (g4715insT). (C) A deletion of ACT and the insertion of a G at genomic nt g7902 in exon 14 results in a frame-shift mutation and predicts a stop at codon 289 (g7902ACT→G). Inserted, deleted, or substituted nt and amino acids are indicated in boldface.

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