Acute intermittent porphyria

Inheritance

Are there any founder mutations that cause acute intermittent porphyria?

A founder mutation is a genetic change that occurs in a specific population of people. These people usually share the same ethnicity, religion, or geographic location. There is a founder HMBS mutation for acute intermittent porphyria in Sweden which originated in Lappland. Therefore, people from Sweden are at increased risk of having a genetic change that causes acute intermittent porphyria.

Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)

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