Nalaganje...

Recent advances in the epidemiology and genetics of acute intermittent porphyria

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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Intractable Rare Dis Res
Main Authors: Ma, Liyan, Tian, Yu, Peng, Chenxing, Zhang, Yiran, Zhang, Songyun
Format: Artigo
Jezik:Inglês
Izdano: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586877/
https://ncbi.nlm.nih.gov/pubmed/33139978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03082
Oznake: Označite
Brez oznak, prvi označite!