Whole Exome Sequencing Identifies Three Novel Mutations in the <i>ASPM</i> Gene From Saudi Families Leading to Primary Microcephaly.

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作者： Muhammad Imran,Naseer ^[1] ; Angham Abdulrahman,Abdulkareem ^[2] ; Osama Yousef,Muthaffar ^[1] ; Sameera,Sogaty ^[3] ; Hiba,Alkhatabi ^[4] ; Sarah,Almaghrabi ^[5] ; Adeel G,Chaudhary ^[1]

作者单位： Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia. ^[1] Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia. ^[2] Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia. ^[3] Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia. ^[4] Department of Medical Genetics, King Fahed General Hospital, Jeddah, Saudi Arabia. ^[5] College of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia. ^[6] Center for Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. ^[7]

关键词 ASPM MCPH Saudi population primary microcephaly whole exom sequencing

DOI 10.3389/fped.2020.627122

PMID 33643967

发布时间 2021-03-03

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Frontiers in pediatrics

2020年8卷

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Whole Exome Sequencing Identifies Three Novel Mutations in the <i>ASPM</i> Gene From Saudi Families Leading to Primary Microcephaly.

Frontiers in pediatrics

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Frontiers in pediatrics

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Whole Exome Sequencing Identifies Three Novel Mutations in the <i>ASPM</i> Gene From Saudi Families Leading to Primary Microcephaly.

Frontiers in pediatrics

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Frontiers in pediatrics

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