The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

被引：0
作者：
Jing Wang
Yuping Yu
Chunquan Cai
Xiufang Zhi
Ying Zhang
Yu Zhao
Jianbo Shu
机构：
[1] Tianjin Children’s Hospital,Department of Gastroenterology
[2] Tianjin Children’s Hospital (Children’s Hospital of Tianjin University),undefined
[3] Graduate College of Tianjin Medical University,undefined
[4] Tianjin Pediatric Research Institute,undefined
[5] Tianjin Key Laboratory of Birth Defects for Prevention and Treatment,undefined
[6] Tianjin Pediatric Research Institute,undefined
[7] Tianjin Children’s Hospital,undefined
来源：
BMC Pediatrics | / 22卷
关键词：
Glycogen storage disease type III; gene; Frameshift variant; Novel variant; Whole-exome sequencing;
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[1]  
Kishnani PS(2010)Glycogen storage disease type III diagnosis and management guidelines Genet Med 12 446-63
[2]  
Austin SL(2016)Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome J Inherit Metab Dis 39 697-704
[3]  
Arn P(1996)Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5’ flanking region Genomics 38 155-65
[4]  
Bali DS(2020)Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III Am J Med Genet A 182 1190-200
[5]  
Boney A(2002)Molecular characterization of glycogen storage disease type III Curr Mol Med 2 167-75
[6]  
Case LE(2006)Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey J Hum Genet 51 958-63
[7]  
Chung WK(2010)Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III Genet Med 12 424-30
[8]  
Desai DM(2017)Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis Int J Organ Transplant Med 8 217-20
[9]  
El-Gharbawy A(2007)Glycogen storage diseases: new perspectives World J Gastroenterol 13 2541-53
[10]  
Haller R(2016)Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III Ultrasound Med Biol 42 133-42
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