Hobbs H.H. ea, 1988


Hobbs H.H. , Leitersdorf E. , Goldstein J.L. , Brown M.S. , Russel D.W. Multiple ctm-mutations in familial hypercholesterolemia. J. Clin. Invest. , 1988 , 81:909-917.

Îïèñàíèå èçâåñòíûõ â íàñòîÿùåå âðåìÿ 13 ìóòàöèé, â ðåçóëüòàòå êîòîðûõ ïîëíîñòüþ íàðóøàåòñÿ ñèíòåç ËÏÍÏ ðåöåïòîðîâ.

Ñìîòðèòå òàêæå:

  • Ãåí ðåöåïòîðà ËÏÍÏ (LDLR): ìóòàöèè (ãèïåðëèïîïðîòåèäåìèÿ II)
  • Ãèïåðõîëåñòåðèíåìèÿ ïåðâè÷íàÿ , áèáëèîãðàôèÿ