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Генетическая диагностика анемии Фанкони. Обзор литературы

https://doi.org/10.17650/1818-8346-2016-11-3-76-85

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Аннотация

В обзоре литературы представлена информация по генетической диагностике анемии Фанкони: описаны применяемые в настоящее время методы генетического анализа, приведены спектр мутаций и частота их распространения, в том числе относительно различных популяций, описаны схема и порядок проведения молекулярно-генетических методик исследования. В статье обозначены проблемы генетической диагностики анемии Фанкони в мире и в частности в Российской Федерации.

Об авторах

А. В. Панферова
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия


Н. М. Тимофеева
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия


Ю. В. Ольшанская
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия


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Для цитирования:


Панферова А.В., Тимофеева Н.М., Ольшанская Ю.В. Генетическая диагностика анемии Фанкони. Обзор литературы. Онкогематология. 2016;11(3):76-85. https://doi.org/10.17650/1818-8346-2016-11-3-76-85

For citation:


Panferova A.V., Timofeeva N.M., Ol’shanskaya Y.V. Genetic diagnosis of Fanconi anemia. Literature review. Oncohematology. 2016;11(3):76-85. (In Russ.) https://doi.org/10.17650/1818-8346-2016-11-3-76-85

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