McCarthy B.J. ea, 1988


McCarthy B.J. , Ludwig E.M. , Innerarity T.L. , Grundy S.M. , Vega G.L. , Mahley R.W. , Weisgraber K.H. An arginine 3500 glutamine mutations in familial defective apo B-100 subjects with LDL defective in binding to the apoB,E (LDL) receptor. Circulation , 1988 , 78 (suppl. II):1166.

Âïåðâûå îïèñàí ýôôåêò ãåíà àïî Â, îòâåòñòâåííûé çà íàðóøåíèå ñâÿçûâàíèÿ ËÏÍÏ ñ ðåöåïòîðàìè, - íîâûé ñëó÷àé ìîíîãåííîé ãèïåðõîëåñòåðèíåìèè.

Ñìîòðèòå òàêæå:

  • ÀïîB100 (Àïîëèïîïðîòåèí B100): íàñëåäñòâåííûå äåôåêòû (ìóòàöèè)
  • Ãèïåðõîëåñòåðèíåìèÿ ïåðâè÷íàÿ , áèáëèîãðàôèÿ