Молекулярная изменчивость кластера импринтированных генов хромосомы 15 у больных с синдромами Прадера-Вилли и Энгельмана
Диссертация
Клиническая картина СПВ и СЭ отличается большим разнообразием, а генетические механизмы, лежащие в основе этиологии и патогенеза этих заболеваний, еще до конца не изучены. СПВ и СЭ возникают как в результате делеции области qll-ql3 отцовской или материнской хромосомы 15, так и в результате ОРД хромосомы 15 материнского или отцовского происхождения соответственно. Кроме того, они могут быть… Читать ещё >
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