128 related articles for article (PubMed ID: 10071203)
1. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Chen YT
Hum Genet; 1999 Jan; 104(1):111-2. PubMed ID: 10071203
[No Abstract] [Full Text] [Related]
2. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Okubo M; Horinishi A; Nakamura N; Aoyama Y; Hashimoto M; Endo Y; Murase T
Hum Genet; 1998 Jan; 102(1):1-5. PubMed ID: 9490286
[TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Shaiu WL; Kishnani PS; Shen J; Liu HM; Chen YT
Mol Genet Metab; 2000 Jan; 69(1):16-23. PubMed ID: 10655153
[TBL] [Abstract][Full Text] [Related]
4. Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
Uotani S; Yamasaki H; Takino H; Kawasaki E; Matsuo H; Yamasaki S; Jinno Y; Niikawa N; Ito M; Sugie H; Yamaguchi Y; Eguchi K
J Inherit Metab Dis; 2000 Jul; 23(5):527-8. PubMed ID: 10947213
[No Abstract] [Full Text] [Related]
5. 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 HM; Lee P; Leonard JV; Chen YT
J Clin Invest; 1996 Jul; 98(2):352-7. PubMed ID: 8755644
[TBL] [Abstract][Full Text] [Related]
6. Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
Okubo M; Horinishi A; Suzuki Y; Murase T; Hayasaka K
Am J Med Genet; 2000 Jul; 93(3):211-4. PubMed ID: 10925384
[TBL] [Abstract][Full Text] [Related]
7. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F; Azzouz H; Petit FM; Khelifa MB; Chehida AB; Nasrallah F; Parisot F; Lasram K; Kefi R; Bouyacoub Y; Romdhane L; Baussan C; Kaabachi N; Ben Dridi MF; Tebib N; Abdelhak S
Mol Biol Rep; 2013 Jul; 40(7):4197-202. PubMed ID: 23649758
[TBL] [Abstract][Full Text] [Related]
8. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
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
J Inherit Metab Dis; 1999 Aug; 22(6):762-3. PubMed ID: 10472540
[No Abstract] [Full Text] [Related]
9. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
Okubo M; Horinishi A; Takeuchi M; Suzuki Y; Sakura N; Hasegawa Y; Igarashi T; Goto K; Tahara H; Uchimoto S; Omichi K; Kanno H; Hayasaka K; Murase T
Hum Genet; 2000 Jan; 106(1):108-15. PubMed ID: 10982190
[TBL] [Abstract][Full Text] [Related]
10. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
Okubo M; Aoyama Y; Murase T
Biochem Biophys Res Commun; 1996 Jul; 224(2):493-9. PubMed ID: 8702417
[TBL] [Abstract][Full Text] [Related]
11. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
Horinishi A; Okubo M; Tang NL; Hui J; To KF; Mabuchi T; Okada T; Mabuchi H; Murase T
J Hum Genet; 2002; 47(2):55-9. PubMed ID: 11924557
[TBL] [Abstract][Full Text] [Related]
12. A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Basit S; Malibari O; Al Balwi AM; Abdusamad F; Abu Ismail F
Ann Saudi Med; 2014; 34(5):390-5. PubMed ID: 25827695
[TBL] [Abstract][Full Text] [Related]
13. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
Okubo M; Aoyama Y; Murase T
Biochem Biophys Res Commun; 1996 Aug; 225(2):695. PubMed ID: 8815868
[No Abstract] [Full Text] [Related]
14. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
Okubo M; Kanda F; Horinishi A; Takahashi K; Okuda S; Chihara K; Murase T
Hum Mutat; 1999 Dec; 14(6):542-3. PubMed ID: 10571954
[TBL] [Abstract][Full Text] [Related]
15. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
Zhuang TF; Qiu ZQ; Wei M; Huang SZ
Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):85-8. PubMed ID: 15833157
[TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of glycogen storage disease type III.
Shen JJ; Chen YT
Curr Mol Med; 2002 Mar; 2(2):167-75. PubMed ID: 11949933
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL; Austin SL; Boyette K; Kanaly A; Veerapandiyan A; Rehder C; Kishnani PS; Bali DS
Genet Med; 2010 Jul; 12(7):424-30. PubMed ID: 20648714
[TBL] [Abstract][Full Text] [Related]
18. Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
Schoser B; Gläser D; Müller-Höcker J
Am J Med Genet A; 2008 Nov; 146A(22):2911-5. PubMed ID: 18924225
[TBL] [Abstract][Full Text] [Related]
19. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS; Teh SH; Khaidizar FD; Ngu LH; Keng WT; Yap S; Mohamed Z
Genes Genomics; 2019 Aug; 41(8):885-893. PubMed ID: 31028654
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
Guo L; Lin W; Zhang Z; Zhao X; Zhang S; Cai X; Zhou Q; Song Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):502-5. PubMed ID: 26252094
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]