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Genetic diagnosis of Fanconi anemia. Literature review
- Authors: Panferova A.V.1, Timofeeva N.M.1, Ol’shanskaya Y.V.1
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Affiliations:
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology named after Dmitiry Rogachev
- Issue: Vol 11, No 3 (2016)
- Pages: 76-85
- Section: RARE DISEASES
- Published: 10.10.2016
- URL: https://oncohematology.abvpress.ru/ongm/article/view/209
- DOI: https://doi.org/10.17650/1818-8346-2016-11-3-76-85
- ID: 209
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Abstract
The literature review provides information on genetic diagnosis of Fanconi anemia: currently used methods of genetic analysis, spectrum and frequency of mutations, including in different populations, and order of molecular genetic methods are described. Problems of genetic diagnosis of Fanconi anemia in the world and in particular in the Russian Federation are also presented.
About the authors
A. V. Panferova
Federal Research Institute of Pediatric Hematology, Oncology and Immunology named after Dmitiry Rogachev
Author for correspondence.
Email: a.panfyorova@gmail.com
Russian Federation
N. M. Timofeeva
Federal Research Institute of Pediatric Hematology, Oncology and Immunology named after Dmitiry RogachevRussian Federation
Yu. V. Ol’shanskaya
Federal Research Institute of Pediatric Hematology, Oncology and Immunology named after Dmitiry RogachevRussian Federation
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