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A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.

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第一作者： Amir,Anushiravani

第一单位： Digestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

作者： Amir,Anushiravani ^[1] ; Hossein,Jafari Khamirani ^[2] ; Ashraf,Mohamadkhani ^[1] ; Arya,Mani ^[3] ; Mehdi,Dianatpour ^[4] ; Reza,Malekzadeh ^[1]

作者单位： Digestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran. ^[1] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. ^[2] Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.;Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. ^[3] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.;Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. ^[4]

关键词 Genetic association studies LIPA protein Liver cirrhosis Lysosomal acid lipase deficiency Non-alcoholic fatty liver disease Whole exome sequencing

医学主题词人类(Humans);女(雌)性(Female);成年人(Adult);伊朗(Iran);Wolman病(Wolman Disease);固醇酯酶(Sterol Esterase);肝硬化(Liver Cirrhosis)

DOI 10.34172/aim.2023.14

PMID 37543928

发布时间 2024-09-25

基金项目

R01 DK134329/DK/NIDDK NIH HHS/United States R01 HL171054/HL/NHLBI NIH HHS/United States

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