Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.-论文-万方医学网

第一作者： Lisa,Heinz

第一单位： Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Faculty of Biology, University of Freiburg, 79104 Freiburg, Germany.

作者： Lisa,Heinz ^[1] ; Gwang-Jin,Kim ^[2] ; Slaheddine,Marrakchi ^[3] ; Julie,Christiansen ^[4] ; Hamida,Turki ^[3] ; Marc-Alexander,Rauschendorf ^[5] ; Mark,Lathrop ^[6] ; Ingrid,Hausser ^[7] ; Andreas D,Zimmer ^[5] ; Judith,Fischer ^[8]

作者单位： Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Faculty of Biology, University of Freiburg, 79104 Freiburg, Germany. ^[1] Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Pharmaceutical Bioinformatics, Institute of Pharmaceutical Sciences, Albert-Ludwigs University, 79104 Freiburg, Germany. ^[2] Department of Dermatology, Hédi Chaker University Hospital, 3029 Sfax, Tunisia. ^[3] Department of Dermatology and Venereology, Skanes University Hospital, 22185 Lund, Sweden. ^[4] Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. ^[5] McGill University and Genome Quebec Innovation Centre, Montréal, QC H3A 0G1, Canada. ^[6] Institute of Pathology, University Hospital Heidelberg, 69120 Heidelberg, Germany. ^[7] Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address: judith.fischer@uniklinik-freiburg.de. ^[8]

主题词结合部位(Binding Sites);细胞分化(Cell Differentiation);细胞增殖(Cell Proliferation);胆固醇酯类(Cholesterol Esters);队列研究(Cohort Studies);家庭(Family);女(雌)性(Female);基因表达调控(Gene Expression Regulation);基因, 隐性(Genes, Recessive);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);鳞癣, 板层状(Ichthyosis, Lamellar);男(雄)性(Male);模型, 生物学(Models, Biological);突变(Mutation);系谱(Pedigree);蛋白质转运(Protein Transport);RNA剪接位点(RNA Splice Sites);皮肤(Skin);磺基转移酶类(Sulfotransferases)

DOI 10.1016/j.ajhg.2017.05.007

PMID 28575648

发布时间 2020-08-24

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

American journal of human genetics

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American journal of human genetics

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

American journal of human genetics

相似文献

American journal of human genetics

相关期刊

检索历史清除