相关实验视频

Updated: Jul 1, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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罗兰德-德布奎斯类型的分段性失育症是由HSPG2的致病变体引起的 - - 这是一种在五名患者中共享的创始人哈普洛型

Paniz Farshadyeganeh1, Takahiro Yamada2, Hirofumi Ohashi3

  • 1Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Journal of human genetics
|February 29, 2024
PubMed
概括

严重的骨疾病 - - 分断性失调症,其非致命类型 (DDRD) 具有与HSPG2基因的遗传联系. 这项研究在五名DDRD患者中确定了HSPG2的四种致病变体,确定DDRD是SJS和DDSH的等位基性疾病.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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