New Mutation in HMBS Gene Linked to Acute Intermittent Porphyria in Chinese Patient
A newly identified mutation in the HMBS gene was found to be linked to acute intermittent porphyria in a patient in China. The case report, “Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type…