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Updated: Jun 29, 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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变种SMAD4载体的表型特征

Claire Caillot1, Jean-Christophe Saurin2,3, Valérie Hervieu4

  • 1Service de Génétique et Centre de référence pour la maladie de Rendu-Osler, Femme-Mère-Enfants Hospital, Hospices Civils de Lyon, Bron, France.

Journal of medical genetics
|April 4, 2024
PubMed
概括

这种SMAD4变异会导致遗传性出血性远程连接 (HHT) 和青少年多发症综合征 (JPS). 这项研究详细介绍了SMAD4变异的HHT患者,揭示了经常出现的消化问题和结缔组织疾病,需要进行全面的查.

关键词:
遗传学 遗传学 遗传学 是一个患者护理 患者护理儿科 儿科 儿科 儿科血管疾病是血管疾病.

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