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

Makiko Yasuda, Lin Gan, Brenden Chen, Chunli Yu, Jinglan Zhang, Miguel A. Gama-Sosa, Daniela D. Pollak, Stefanie Berger, John D. Phillips, Winfried Edelmann, Robert J. Desnick

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Medicine & Life Sciences