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Browsing by Author Shen, J.


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Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
1997A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIaShen, J.; Bao, Y.; Chen, Y. T.Hum Mutat 9, 37-40
1997A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patientsParvari, R.; Moses, S.; Shen, J.; Hershkovitz, E.; Lerner, A.; Chen, Y. T.Eur J Hum Genet 5, 266-270
2000Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage diseaseShaiu, W. L.; Kishnani, P. S.; Shen, J.; Liu, H. M.; Chen, Y. T.Mol Genet Metab 69, 16-23
1996Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscleShen, J.; Bao, Y.; Liu, H. M.; Lee, P.; Leonard, J. V.; Chen, Y. T.J Clin Invest 98, 352-357
1999Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIaHadjigeorgiou, G. M.; Comi, G. P.; Bordoni, A.; Shen, J.; Chen, Y. T.; Salani, S.; Toscano, A.; Fortunato, F.; Lucchiari, S.; Bresolin, N.; Rodolico, C.; Piscaglia, M. G.; Franceschina, L.; Papadimitriou, A.; Scarlato, G.J Inherit Metab Dis 22, 762-763
1997Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type IIIShen, J.; Liu, H. M.; Bao, Y.; Chen, Y. T.J Med Genet 34, 34-38
2007Predicting hepatocellular carcinoma by detection of aberrant promoter methylation in serum DNA 13Zhang, Y. J.; Wu, H. C.; Shen, J.; Ahsan, H.; Tsai, W. Y.; Yang, H. I.; Wang, L. Y.; Chen, S. Y.; Chen, C. J.; Santella, R. M.Clin Cancer Res 8, 2378-2384
1998Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markersShen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T.Prenat Diagn 18, 61-64
1999Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysisShen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T.Prenat Diagn 19, 837-839
1998Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patientParvari, R.; Shen, J.; Hershkovitz, E.; Chen, Y. T.; Moses, S. W.J Inherit Metab Dis 21, 141-148
Showing results 1 to 10 of 10
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