A Novel Splicing Mutation in the <i>FBN2</i> Gene in a Family With Congenital Contractural Arachnodactyly.

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作者： Peiwen,Xu ^[1] ; Ruirui,Li ^[2] ; Sexin,Huang ^[3] ; Menghan,Sun ^[1] ; Jiaolong,Liu ^[2] ; Yuping,Niu ^[3] ; Yang,Zou ^[1] ; Jie,Li ^[2] ; Ming,Gao ^[3] ; Xiaolei,Li ^[4] ; Xuan,Gao ^[1] ; Yuan,Gao ^[2]

作者单位： Center for Reproductive Medicine, Shandong University, Jinan, China. ^[1] National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China. ^[2] The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China. ^[3] School of Biological Science, University of California, Irvine, Irvine, CA, United States. ^[4]

关键词 FBN2 gene congenital contractural arachnodactyly in-frame deletion novel splice mutation whole exome sequencing

DOI 10.3389/fgene.2020.00143

PMID 32184806

发布时间 2020-09-28

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Frontiers in genetics

2020年11卷

143页

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A Novel Splicing Mutation in the <i>FBN2</i> Gene in a Family With Congenital Contractural Arachnodactyly.

Frontiers in genetics

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Frontiers in genetics

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A Novel Splicing Mutation in the <i>FBN2</i> Gene in a Family With Congenital Contractural Arachnodactyly.

Frontiers in genetics

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Frontiers in genetics

相关期刊

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