Triallelic and epigenetic-like inheritance in human disorders of telomerase-Reference-Cited by-同舟云学术

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Published:2015-07-09 Issue:2 Volume:126 Page:176-184
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Collopy Laura C.¹,Walne Amanda J.¹,Cardoso Shirleny¹,de la Fuente Josu²,Mohamed Mahfuzah³,Toriello Helga⁴,Tamary Hannah⁵,Ling Adam J. Y. V.¹,Lloyd Timothy¹,Kassam Rebecca¹,Tummala Hemanth¹,Vulliamy Thomas J.¹,Dokal Inderjeet¹⁶

Affiliation:

1. Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom;

2. Department of Paediatric Haematology, Imperial College Healthcare National Health Service Trust, St. Mary’s Hospital, London, United Kingdom;

3. Paediatric Haematology-Oncology Unit, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia;

4. Department of Genetics, Spectrum Health, Grand Rapids, MI;

5. Paediatric Haematology Unit, Schneider Children’s Hospital, Medical Center of Israel, Petach Tikvah, Israel; and

6. Barts Health, London, United Kingdom

Abstract

Key Points Telomerase variants in patients with bone marrow failure syndromes are difficult to categorize as disease-causing or otherwise. DC can derive from triallelic mutations in 2 telomerase genes and epigenetic-like inheritance of short telomeres.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/126/2/176/1390390/176.pdf

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