Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia-Reference-Cited by-同舟云学术

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Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia

Published:2013 Issue:4 Volume:4 Page:184-196
ISSN:1661-8777
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Govani F.S.,Giess A.,Mollet I.G.,Begbie M.E.,Jones M.D.,Game L.,Shovlin C.L.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT;Blood;2024-05-30

2. Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction;Journal of Clinical Medicine;2023-12-31

3. Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA;The American Journal of Human Genetics;2023-11

4. Functional filter for whole genome sequence data identifies stress impact, non-coding alternate polyadenylation site variants >5kb from coding DNA;2023-05-14

5. Heterozygous transcriptional and nonsense decay signatures in blood outgrowth endothelial cells from patients with hereditary haemorrhagic telangiectasia;2021-12-06

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