Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene-Reference-Cited by-同舟云学术

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Published:2020-10-19 Issue:2 Volume:99 Page:292-297
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Backers Lynn¹²^ORCID,Parton Bram¹²,De Bruyne Marieke¹^ORCID,Tavernier Simon J.³⁴^ORCID,Van Den Bogaert Kris⁵,Lambrecht Bart N.⁶⁷^ORCID,Haerynck Filomeen⁷^ORCID,Claes Kathleen B.M.¹²^ORCID

Affiliation:

1. Center for Medical Genetics, Department of Biomolecular Medicine Ghent University and Ghent University Hospital Ghent Belgium

2. Cancer Research Institute Ghent (CRIG) Ghent University Ghent Belgium

3. Unit of Molecular Signal Transduction in Inflammation VIB‐UGent Center for Inflammation Research Ghent Belgium

4. Department of Biomedical Molecular Biology Ghent University Ghent Belgium

5. Center for Human Genetics University Hospitals Leuven – Catholic University Leuven Leuven Belgium

6. Unit of Immunoregulation and Mucosal Immunology VIB‐UGent Center for Inflammation Research Ghent Belgium

7. Department of Internal Medicine and Pediatrics Ghent University Ghent Belgium

Funder

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13859

Reference24 articles.

1. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs: probably a syndrome entity;Bloom D;AMA Am J Dis Child,1954

2. Bloom's Syndrome. XII. Report from the Registry for 1987

3. A Manyfold Increase in Sister Chromatid Exchanges in Bloom's Syndrome Lymphocytes

4. The Bloom's syndrome gene product is homologous to RecQ helicases

5. Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity

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