Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) results from a decreased activity of hepatic hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. AIP is an autosomal dominant disorder with incomplete penetrance, characterized by acute neurovisceral attacks precipitated by sever...

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Bibliographic Details
Main Authors: María-José Morán-Jiménez, María-José Borrero-Corte, Fátima Jara-Rubio, Inmaculada García-Pastor, Silvia Díaz-Díaz, Francisco-Javier Castelbón-Fernandez, Rafael Enríquez-de-Salamanca, Manuel Méndez
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
porphyria
acute intermittent porphyria
hydroxymethylbilane synthase
porphobilinogen deaminase
mutation analysis
splicing defect
Online Access:https://www.mdpi.com/2073-4425/11/8/924

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https://www.mdpi.com/2073-4425/11/8/924

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