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Contribution of private mtDNA mutations to ID in ASD.

NIAID Data Ecosystem2026-03-09 收录

自闭症遗传病因

线粒体DNA突变关联

数据链接：

https://figshare.com/articles/dataset/Contribution_of_private_mtDNA_mutations_to_ID_in_ASD_/4128252 数据链接链接失效反馈

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资源简介：

Contribution of private mtDNA mutations to ID in ASD.

应用场景：

创建时间：

2016-10-29

自闭症遗传病因

嵌合突变分析

De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired

NIAID Data Ecosystem60

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

自闭症遗传病因

隐性突变检测

Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify

NIAID Data Ecosystem10

Supplementary Material for: A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

自闭症遗传病因

染色体异常

Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of beh

Figshare2017-06-20 更新00

Genetics of non-syndromic idiopathic autism spectrum disorders in India

自闭症遗传病因

外显子测序

The study explores the genetic architecture of patients diagnosed with non-syndromic autism spectrum disorders (according to the DSM-V criteria) in India. Patients were previously screened for aneuplo

NIAID Data Ecosystem10

Contribution of private mtDNA mutations to ASD.

自闭症遗传病因

Contribution of private mtDNA mutations to ASD.

NIAID Data Ecosystem10