A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2-Reference-Cited by-同舟云学术

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A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

Published:1998-03-01 Issue:3 Volume:7 Page:393-398
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
Short-container-title:

Author:

De Klein A

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Cited by 46 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. Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis;Journal of Medical Genetics;2024-02-01

2. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant;Human Molecular Genetics;2022-11-25

3. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease;Investigative Opthalmology & Visual Science;2022-04-27

4. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

5. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience;Human Mutation;2021-11-15

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