Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
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- 作者：Berna Seker Yilmaza ; berna_seker@yahoo.co.uk" class="auth_mail" title="E-mail the corresponding author ; Neslihan Onenli Mungana ; munganhno@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Enza Di Leob ; c ; enzadileo76@libero.it" class="auth_mail" title="E-mail the corresponding author ; Lucia Magnolob ; lucillamag@libero.it" class="auth_mail" title="E-mail the corresponding author ; Lucia Artusoc ; lucia.artuso@unimore.it" class="auth_mail" title="E-mail the corresponding author ; Isabella Bernardisc ; isabella.bernardis@unimore.it" class="auth_mail" title="E-mail the corresponding author ; Gokhan Tumgord ; gtumgor74@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Deniz Kora ; dozonur@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Patrizia Tarugib ; c ; tarugi@unimore.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：ABL ; abetalipoproteinemia ; FHBL ; familial hypobetalipoproteinemia ; CMRD ; chylomicron retention disease ; HDL-C ; high density lipoprotein-cholesterol ; LDL-C ; low density lipoprotein-cholesterol ; TC ; total cholesterol ; TG ; triglyceride
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：15 January 2016
- 年：2016
- 卷：452
- 期：Complete
- 页码：185-190
- 全文大小：419 K
文摘
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We investigated a girl with severe hypobetalipoproteinemia and lipid malabsorption.
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Abetalipoproteinemia and chylomicron retention disease were excluded.
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She was found to be homozygous for Arg505Trp substitution in apolipoprotein B.
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This missense mutation is located in the βα1 domain of apolipoprotein B.
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The mutation reduced the secretion of human apoB-48 in McA-RH7777 cells.