首页> Annals of translational medicine> Six <i>ALPL</i> gene variants in five children with hypophosphatasia.

Six <i>ALPL</i> gene variants in five children with hypophosphatasia.

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第一作者： Na,Su

第一单位： Department of Endocrinology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.;Department of Child Endocrinology and Genetic Metabolism, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

作者： Na,Su ^[1] ; Min,Zhu ^[2] ; Xinran,Cheng ^[3] ; Ke,Xu ^[3] ; Roland,Kocijan ^[4] ; Huijiao,Zhang ^[2]

作者单位： Department of Endocrinology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.;Department of Child Endocrinology and Genetic Metabolism, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. ^[1] Department of Endocrinology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China. ^[2] Department of Child Endocrinology and Genetic Metabolism, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. ^[3] Medical Faculty of Bone Diseases, Sigmund Freud University, Vienna, Austria.;Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Center Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria. ^[4]

关键词 Hypophosphatasia alkaline phosphatase gene variant pathogenic mechanism the liver/bone/kidney alkaline phosphatase gene (ALPL gene)

DOI 10.21037/atm-21-2096

PMID 34164522

发布时间 2022-08-30

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Annals of translational medicine

2021年9卷10期

888页

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Annals of translational medicine

2021年9卷10期

888页

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Six <i>ALPL</i> gene variants in five children with hypophosphatasia.

Annals of translational medicine

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Six <i>ALPL</i> gene variants in five children with hypophosphatasia.

Annals of translational medicine

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Annals of translational medicine

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