Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
1997 | A 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 IIIa | Shen, J.; Bao, Y.; Chen, Y. T. | Hum Mutat 9, 37-40 | | | |
1996 | Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene | Bao, Y.; Kishnani, P.; Wu, J. Y.; Chen, Y. T. | J Clin Invest 97, 941-948 | | | |
1996 | Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region | Bao, Y.; Dawson, T. L.; Chen, Y. T. | Genomics 38, 155-165 | | | |
1992 | Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | Ding, J. H.; Yang, B. Z.; Bao, Y.; Roe, C. R.; Chen, Y. T. | Am J Hum Genet 50, 229-233 | | | |
1997 | Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia | Kishnani, P. S.; Bao, Y.; Wu, J. Y.; Brix, A. E.; Lin, J. L.; Chen, Y. T. | Biochem Mol Med 61, 168-177 | | | |
1997 | Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms | Bao, Y.; Yang, B. Z.; Dawson, T. L. Jr.; Chen, Y. T. | Gene 197, 389-398 | | | |
1992 | Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme | Yang, B. Z.; Ding, J. H.; Enghild, J. J.; Bao, Y.; Chen, Y. T. | J Biol Chem 267, 9294-9299 | | | |
1996 | Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle | Shen, J.; Bao, Y.; Liu, H. M.; Lee, P.; Leonard, J. V.; Chen, Y. T. | J Clin Invest 98, 352-357 | | | |
1997 | Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III | Shen, J.; Liu, H. M.; Bao, Y.; Chen, Y. T. | J Med Genet 34, 34-38 | | | |
1995 | RFLPs for linkage analysis in families with glycogen storage disease type III | Mishori-Dery, A.; Bashan, N.; Moses, S.; Hershkovitz, E.; Bao, Y.; Chen, Y. T.; Parvari, R. | J Inherit Metab Dis 18, 207-210 | | | |