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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients with homozygous dominant AIP (HD-AI...

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Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Yasuda, Makiko, Gan, Lin, Chen, Brenden, Yu, Chunli, Zhang, Jinglan, Gama-Sosa, Miguel A, Pollak, Daniela D, Berger, Stefanie, Phillips, John D, Edelmann, Winfried, Desnick, Robert J
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2019
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6522063/
https://ncbi.nlm.nih.gov/pubmed/30615115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz003
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