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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7464722/
https://ncbi.nlm.nih.gov/pubmed/32806544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080924
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi