127 related articles for article (PubMed ID: 8702417)
1. 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]
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. 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]
4. 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]
5. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Lucchiari S; Fogh I; Prelle A; Parini R; Bresolin N; Melis D; Fiori L; Scarlato G; Comi GP
Am J Med Genet; 2002 May; 109(3):183-90. PubMed ID: 11977176
[TBL] [Abstract][Full Text] [Related]
6. 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 YT
Hum Mutat; 1997; 9(1):37-40. PubMed ID: 8990006
[TBL] [Abstract][Full Text] [Related]
7. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
Klima H; Ullrich K; Aslanidis C; Fehringer P; Lackner KJ; Schmitz G
J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
Tomiyama Y; Kashiwagi H; Kosugi S; Shiraga M; Kanayama Y; Kurata Y; Matsuzawa Y
Thromb Haemost; 1995 May; 73(5):756-62. PubMed ID: 7482399
[TBL] [Abstract][Full Text] [Related]
11. A 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 patients.
Parvari R; Moses S; Shen J; Hershkovitz E; Lerner A; Chen YT
Eur J Hum Genet; 1997; 5(5):266-70. PubMed ID: 9412782
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
Chayoth R; Moses SW; Steinitz K
Isr J Med Sci; 1967; 3(3):422-6. PubMed ID: 5317552
[No Abstract] [Full Text] [Related]
14. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
[TBL] [Abstract][Full Text] [Related]
15. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
Aslanidis C; Ries S; Fehringer P; Büchler C; Klima H; Schmitz G
Genomics; 1996 Apr; 33(1):85-93. PubMed ID: 8617513
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
Yeowell HN; Walker LC
Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Lucchiari S; Donati MA; Parini R; Melis D; Gatti R; Bresolin N; Scarlato G; Comi GP
Hum Mutat; 2002 Dec; 20(6):480. PubMed ID: 12442284
[TBL] [Abstract][Full Text] [Related]
19. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
Shieh JJ; Lin CY
Biochem Biophys Res Commun; 1996 Feb; 219(2):322-6. PubMed ID: 8604985
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
