相关实验视频

Updated: Jun 13, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一种复发性复发性主导ITPR3变体导致复杂的多系统性疾病

Anne Molitor1,2, Alexandre Lederle1,2, Mirjana Radosavljevic1,2,3

  • 1Laboratoire d'ImmunoRhumatologie Moléculaire, Institut national de la santé et de la recherche médicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d'Immunologie et d'Hématologie and Centre de Recherche en Biomédecine de Strasbourg (CRBS), Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

Science advances
|September 13, 2024
PubMed
概括

一种新的伊诺西1,4,5-三酸盐受体3型 (ITPR3) 变体导致复杂的多系统性疾病与免疫缺陷. 这种主导负基因突变破坏了平衡,并影响多个器官,与之前发现的ITPR1-3缺陷不同.

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Published on: August 15, 2019

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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