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Updated: Jun 15, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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具有22q11.2删除和额外的遗传缺陷的耐治疗精神分裂症

Sawako Furukawa1, Shusei Arafuka1, Hidekazu Kato1,2

  • 1Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Neuropsychopharmacology reports
|August 27, 2024
PubMed
概括

全基因组测序在22q11.2删除综合征患者中发现了一种新的MAP1A基因变异. 这一发现可能解释了患者的严重智力障碍和耐治疗精神分裂症.

关键词:
22q11.2 删除综合征遗传学:人类遗传学:人类遗传学:人类遗传学.精神分裂症:临床的精神分裂症治疗耐药的精神分裂症.整个基因组测序的测序.

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