دورية أكاديمية
Novel APOB mutation in familial hypobetalipoproteinemia.
| العنوان: | Novel APOB mutation in familial hypobetalipoproteinemia. |
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| المؤلفون: | Domenech M; Lipid and Vascular Risk Unit, Endocrinology and Nutrition Department, Hospital Clinic of Barcelona, Spain; Faculty of Medicine and Health Sciences. University of Barcelona. Spain; Biomedical Research Networking Center for Physiopathology of Obesity and Nutrition (CIBEROBN). Institute of Health Carlos III, ISCIII. Spain., Llano-Rivas I; Clinical Genetics, Genetic Service. Hospital Universitario Cruces, Basque Country, Spain., Arroyo V; EF Clif, EASL-CLIF Consortium and Grifols Chair, Barcelona, Spain., Ortega E; Lipid and Vascular Risk Unit, Endocrinology and Nutrition Department, Hospital Clinic of Barcelona, Spain; Faculty of Medicine and Health Sciences. University of Barcelona. Spain; Biomedical Research Networking Center for Physiopathology of Obesity and Nutrition (CIBEROBN). Institute of Health Carlos III, ISCIII. Spain. Electronic address: eortega1@clinic.cat. |
| المصدر: | Journal of clinical lipidology [J Clin Lipidol] 2022 Jan-Feb; Vol. 16 (1), pp. 28-32. Date of Electronic Publication: 2021 Nov 16. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Elsevier |
| مواضيع طبية MeSH: | Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Hypobetalipoproteinemias*/genetics, Apolipoprotein B-100/*genetics, Apolipoproteins B/genetics ; Humans ; Mutation |
| مستخلص: | . (Copyright © 2021. Published by Elsevier Inc.) |
| فهرسة مساهمة: | Keywords: ANGPTL3; APOB mutation; Familial hypobetalipoproteinemia; Fatty liver; Hypocholesterolemia |
| المشرفين على المادة: | 0 (APOB protein, human) 0 (Apolipoprotein B-100) 0 (Apolipoproteins B) |
| SCR Disease Name: | Hypobetalipoproteinemia, Familial, 1 |
| تواريخ الأحداث: | Date Created: 20211202 Date Completed: 20220415 Latest Revision: 20220719 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1016/j.jacl.2021.11.003 |
| PMID: | 34852964 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1933-2874 |
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| DOI: | 10.1016/j.jacl.2021.11.003 |