首页> Molecular genetics & genomic medicine> Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

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第一作者： Seung Woo,Ryu

第一单位： 3billion, Inc, Seoul, South Korea.

作者： Seung Woo,Ryu ^[1] ; Ji-Hee,Yoon ^[2] ; Dong-Wook,Kim ^[1] ; Beomman,Han ^[1] ; Heonjong,Han ^[1] ; Joohyun,Han ^[1] ; Hane,Lee ^[1] ; Go Hun,Seo ^[1] ; Beom Hee,Lee ^[2]

作者单位： 3billion, Inc, Seoul, South Korea. ^[1] Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. ^[2]

关键词 complex inversion complex structural variant genome sequencing tuberous sclerosis complex

医学主题词人类(Humans);肿瘤抑制蛋白质类(Tumor Suppressor Proteins);突变(Mutation);结节性硬化症(Tuberous Sclerosis);染色体, 人, 9对(Chromosomes, Human, Pair 9);韩国(Republic of Korea)

DOI 10.1002/mgg3.2330

PMID 38265426

发布时间 2024-03-25

基金项目

2021ER040200/Korea National Institute of Health

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Molecular genetics & genomic medicine

2024年12卷3期

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Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Molecular genetics & genomic medicine

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Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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