Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor-Reference-Cited by-同舟云学术

Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor

Published:2021-12-17 Issue:2 Volume:43 Page:215-227
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Liang Qian¹²^ORCID,Lin Xiaoyi¹,Wu Xi¹,Shao Yanyan¹,Chen Changming¹,Dai Jing¹,Lu Yeling¹,wu Wenman¹³,Ding Qiulan¹³,Wang Xuefeng¹³

Affiliation:

1. Department of Laboratory Medicine Ruijin Hospital, Shanghai Jiaotong University School of Medicine Shanghai China

2. State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital Shanghai Jiaotong University School of Medicine Shanghai China

3. Collaborative Innovation Center of Hematology Shanghai Jiaotong University School of Medicine Shanghai China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24312

Reference46 articles.

1. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

3. RNA splicing in human disease and in the clinic

4. The regulation properties of RNA secondary structure in alternative splicing

5. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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2. A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies;International Journal of Molecular Sciences;2022-03-13