An Intron Mutation in the ACVRL1 May Be Associated with a Transcriptional Regulation Defect in a Chinese Family with Hereditary Hemorrhagic Telangiectasia

Keywords

Intron, ACVRL1, Genetics, Biology, Mutation

References

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• Potentially functional polymorphisms in ATG10 are associated with risk of breast cancer in a Chinese population.Hyung‐Lae Kim — 2013
• Potentially functional polymorphisms in aminoacyl‐tRNA synthetases genes are associated with breast cancer risk in a Chinese populationYisha He, Jianhang Gong, Yanru Wang — 2015
• Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.H. Li, Linda Spencer, Adil Al‐Nahhas — 2014
• Genetic variants in Ser-Arg protein-coding genes are associated with the risk of nonobstructive azoospermia in Chinese men.Bixian Ni, Hongxia Ma, Yuan Lin — 2014
• Potentially functional polymorphisms in PAK1 are associated with risk of lung cancer in a Chinese populationMingfeng Zheng, Jia Liu, Meng Zhu — 2015
• DNMT3A mutations and prognostic significance in childhood acute lymphoblastic leukemiaWeijing Li, Chao Gao, Lei Cui — 2015
• Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk.Yufeng Qin, John S. Ji, Gaixin Du — 2014
• Thalidomide Effects in Patients with Hereditary Hemorrhagic Telangiectasia During Therapeutic Treatment and in Fli-EGFP Transgenic Zebrafish ModelHongling Peng, Yifang Yi, Shunke Zhou — 2015
• Non-SMC condensin I complex, subunit D2 gene polymorphisms are associated with Parkinson's disease: a Han Chinese study.Ping Zhang, Ling Liu, Jinsha Huang — 2014
• Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1Virginia Albiñana, María Paz Zafra, Jorge Colau — 2017
• Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complexYicong Ye, Yong Zeng — 2019
• The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palateDandan Li, Guirong Zhu, Shu Lou — 2019

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