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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Detalles Bibliográficos
Autores principales: Morán-Jiménez, María-José, Borrero-Corte, María-José, Jara-Rubio, Fátima, García-Pastor, Inmaculada, Díaz-Díaz, Silvia, Castelbón-Fernandez, Francisco-Javier, Enríquez-de-Salamanca, Rafael, Méndez, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464722/
https://www.ncbi.nlm.nih.gov/pubmed/32806544
http://dx.doi.org/10.3390/genes11080924

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464722/
https://www.ncbi.nlm.nih.gov/pubmed/32806544
http://dx.doi.org/10.3390/genes11080924

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