Biopolym. Cell. 1998; 14(1):5-11.
http://dx.doi.org/10.7124/bc.0004B1
Огляди
Молекулярно-генетичні аспекти синдрому ламкої Х-хромосоми (Мартина-Белла)
1Малярчук С. Г.
  1. Інститут молекулярної біології і генетики НАН України
    Вул. Академіка Заболотного, 150, Київ, Україна, 03680

Abstract

Синдром ламкої Х-хромосоми (Мартина-Белла) — найрозповсюдженіша форма розумової відсталості з Х-зчепленим типом успадкування з неповною пенетрантністю. Частота розповсюдження складає близько 1 на 1500 чоловіків та 1 на 2500 жінок. У даному огляді наведено сучасні дані про структуру гена FMR1, природу динамічних мутацій, пов'язаних з експансією інтрагенних CGG-повторів, а також інших типів мутацій у цьому гені.
Повний текст: (PDF, російською)

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