Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

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作者： Magdalena,Seidl-Philipp ^[1] ; Anna Sarah,Schossig ^[2] ; Verena,Moosbrugger-Martinz ^[1] ; Johannes,Zschocke ^[2] ; Matthias,Schmuth ^[1] ; Robert,Gruber ^[1]

作者单位： Department of Dermatology, Venerology and Allergology, Medical University of Innsbruck, Austria. ^[1] Department of Human Genetics, Medical University of Innsbruck, Austria. ^[2]

主题词成年人(Adult);奥地利(Austria);表皮(Epidermis);女(雌)性(Female);基因, 隐性(Genes, Recessive);人类(Humans);鳞癣样红皮病, 先天性(Ichthyosiform Erythroderma, Congenital);鳞癣, 板层状(Ichthyosis, Lamellar);突变, 误义(Mutation, Missense);氧化还原酶类(Oxidoreductases);同胞(Siblings)

DOI 10.1111/ddg.13843

PMID 31012992

发布时间 2021-01-15

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Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology

2019年17卷7期

742-745页

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Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology

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Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology

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Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology

相似文献

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology

相关期刊

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