Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.-论文-万方医学网

第一作者： Jasmin,Barman-Aksözen

第一单位： Institute of Laboratory Medicine, Municipal Hospital Triemli, Zürich 8063, Switzerland.

作者： Jasmin,Barman-Aksözen ^[1] ; Paulina,C Wiek ^[2] ; Vijay B,Bansode ^[2] ; Frank,Koentgen ^[3] ; Judith,Trüb ^[2] ; Pawel,Pelczar ^[4] ; Paolo,Cinelli ^[5] ; Xiaoye,Schneider-Yin ^[1] ; Daniel,Schümperli ^[6] ; Elisabeth I,Minder ^[7]

作者单位： Institute of Laboratory Medicine, Municipal Hospital Triemli, Zürich 8063, Switzerland. ^[1] Institute of Cell Biology, University of Bern, Bern 3012, Switzerland. ^[2] Ozgene Pty Ltd, Bentley DC, WA 6983, Australia. ^[3] Center for Transgenic Models, University of Basel, Basel 4002, Switzerland. ^[4] Division of Trauma Surgery, University Hospital Zürich, Zürich 8091, Switzerland. ^[5] Institute of Cell Biology, University of Bern, Bern 3012, Switzerland Elisabeth.Minder@triemli.zuerich.ch daniel.schuemperli@izb.unibe.ch. ^[6] Institute of Laboratory Medicine, Municipal Hospital Triemli, Zürich 8063, Switzerland Elisabeth.Minder@triemli.zuerich.ch daniel.schuemperli@izb.unibe.ch.;Porphyria Outpatient Clinics, Municipal Hospital Triemli, Zürich 8063, Switzerland. ^[7]

医学主题词等位基因(Alleles);选择性剪接(Alternative Splicing);动物(Animals);碱基序列(Base Sequence);血细胞(Blood Cells);繁殖(Breeding);疾病模型, 动物(Disease Models, Animal);外显子(Exons);亚铁螯合酶(Ferrochelatase);基因型(Genotype);人类(Humans);光(Light);肝(Liver);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 转基因(Mice, Transgenic);突变(Mutation);器官测量(Organ Size);原卟啉病, 红细胞生成性(Protoporphyria, Erythropoietic);RNA, 信使(RNA, Messenger);皮肤(Skin)

DOI 10.1242/dmm.027755

PMID 28093505

发布时间 2018-11-13

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Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Disease models & mechanisms

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Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Disease models & mechanisms

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同项目论文

Disease models & mechanisms

相关期刊

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