Recent advances in the epidemiology and genetics of acute intermittent porphyria

• Published in: Intractable & Rare Diseases Research Vol. 9; no. 4; pp. 196 - 204
• Main Authors: Ma, Liyan, Tian, Yu, Peng, Chenxing, Zhang, Yiran, Zhang, Songyun
• Format: Journal Article
• Language: English
• Published: Japan International Research and Cooperation Association for Bio & Socio-Sciences Advancement 01.11.2020
• Subjects: acute intermittent porphyria; genetic traits; genotype-phenotype correlation; modifying genes; penetrance; prevalence; Review; prevalence; genetic traits; modifying genes; acute intermittent porphyria; genotype-phenotype correlation; penetrance

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, a...