About: Screening of familial ligand-defective apo B-100 from dried blood spots of newborns.

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About: Screening of familial ligand-defective apo B-100 from dried blood spots of newborns. Goto Sponge Distinct Permalink

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Description	Stanovit frekvenci vřskytu FDB (mutace R3500Q v genu pro apo B) v ŔeskÚ populaci. Identifikovat posti×enÚ jedince z krevnÝ skvrny v rßmci screeningu novorozenc¨. U jedinc¨ s diagnˇzou FDB i v jejich rodinßch navrhnout komplex lÚŔebný preventivnÝch opat°enÝ s ohledem na fenotypovÚ vyjßd°enÝ onemocnýnÝ. (cs) To determine the frequency of FDB (mutation R3500Q in apo B gene) in Czech population. To identify affected individuals from blood spots within newborns screening. To suggest a complex of therapeutio-preventive measures with respect to disease phenotype expression in subjects with diagnosed FDB as well as in their families. (en)
Title	Screening of familial ligand-defective apo B-100 from dried blood spots of newborns. (en) Screening familiárních funkčního defektu v ligandové doméně apo B-100 ze suchých krevních skvrn novorozenců (cs)
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