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Genetic Analysis of left-right axis malformations

Genetic Analysis of left-right axis malformations
左右轴畸形的遗传分析
批准号：
6830465
负责人：
Maximilian Muenke
金额：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6830465
关键词：
developmental disease /disorder developmental genetics developmental neurobiology family genetics gene environment interaction gene expression gene mutation genetic disorder genetic mapping heart ventricle human subject organ patient oriented research phenotype postnatal growth disorder

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英文摘要
A study of the complex genetics of left-right (L-R) axis malformations has been undertaken with an emphasis on those genes that are associated with common phenotypes of L-R disorders, including situs inversus, heterotaxia and organ isomerism. L-R defects can result from either environmental or genetic causes and it is the aim of these investigations to determine the genes responsible for both normal and abnormal L-R axis formation through the study of patients with these disorders. Mutations in several such genes have been shown to be responsible for several familial and sporadic cases of heterotaxia: ZIC3, LEFTY A, ACVR2B, and CFC1. We have identified several additional genes important for L-R development including FAST1 and GDF1.
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会议论文
Beyond the reproductive tract: The future of Y chromosome research
Beyond the reproductive tract: The future of Y chromosome research
Beyond the reproductive tract: The future of Y chromosome research
GENETIC ANALYSIS OF HUMAN BRAIN DEVELOPMENT
  • 批准号：
    2502634
  • 项目类别：
  • 资助金额：
    $39.77万
  • 财政年份：
    1994
  • 负责人：
    Maximilian Muenke
  • 依托单位：
    CHILDREN'S HOSP OF PHILADELPHIA
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