Author:
Endo Yoriko,Horinishi Asako,Vorgerd Matthias,Aoyama Yoshiko,Ebara Tetsu,Murase Toshio,Odawara Masato,Podskarbi Teodor,Shin Yoon S.,Okubo Minoru
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference24 articles.
1. Bao Y, Dawson TL Jr, Chen YT (1996) Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 38:155–165
2. Bao Y, Yang BZ, Dawson TL Jr, Chen YT (1997) Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. Gene 197:389–398
3. Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn, vol I. McGraw-Hill, New York, pp 1521–1551
4. Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M (2005) Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. J Hum Genet 50:538–542
5. Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G (1999) Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis 22:762–763
Cited by
44 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献