149 related articles for article (PubMed ID: 12689701)
1. A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.
Ozkara HA; Sandhoff K
Brain Dev; 2003 Apr; 25(3):203-6. PubMed ID: 12689701
[TBL] [Abstract][Full Text] [Related]
2. A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
Akli S; Chelly J; Mezard C; Gandy S; Kahn A; Poenaru L
J Biol Chem; 1990 May; 265(13):7324-30. PubMed ID: 2139660
[TBL] [Abstract][Full Text] [Related]
3. Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Sinici I; Ozkara HA; Topçu M; Ciliv G
Pediatr Int; 2003 Feb; 45(1):16-22. PubMed ID: 12654063
[TBL] [Abstract][Full Text] [Related]
4. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
Akli S; Chomel JC; Lacorte JM; Bachner L; Kahn A; Poenaru L
Hum Mol Genet; 1993 Jan; 2(1):61-7. PubMed ID: 8490625
[TBL] [Abstract][Full Text] [Related]
5. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Harmon DL; Gardner-Medwin D; Stirling JL
J Med Genet; 1993 Feb; 30(2):123-8. PubMed ID: 8445615
[TBL] [Abstract][Full Text] [Related]
6. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
Tanaka A; Sakuraba H; Isshiki G; Suzuki K
Biochem Biophys Res Commun; 1993 Apr; 192(2):539-46. PubMed ID: 8484765
[TBL] [Abstract][Full Text] [Related]
7. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
Fernandes MJ; Hechtman P; Boulay B; Kaplan F
Eur J Hum Genet; 1997; 5(3):129-36. PubMed ID: 9272736
[TBL] [Abstract][Full Text] [Related]
8. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Hum Mutat; 1997; 9(3):195-208. PubMed ID: 9090523
[TBL] [Abstract][Full Text] [Related]
9. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
Drucker L; Hemli JA; Navon R
Hum Mutat; 1997; 10(6):451-7. PubMed ID: 9401008
[TBL] [Abstract][Full Text] [Related]
10. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Akerman BR; Zielenski J; Triggs-Raine BL; Prence EM; Natowicz MR; Lim-Steele JS; Kaback MM; Mules EH; Thomas GH; Clarke JT
Hum Mutat; 1992; 1(4):303-9. PubMed ID: 1301938
[TBL] [Abstract][Full Text] [Related]
11. Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
Triggs-Raine BL; Akerman BR; Clarke JT; Gravel RA
Am J Hum Genet; 1991 Nov; 49(5):1041-54. PubMed ID: 1833974
[TBL] [Abstract][Full Text] [Related]
12. Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.
Ozkara HA; Sandhoff K
Brain Dev; 2003 Apr; 25(3):191-4. PubMed ID: 12689698
[TBL] [Abstract][Full Text] [Related]
13. Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
Ozkara HA; Akerman BR; Ciliv G; Topçu M; Renda Y; Gravel RA
Hum Mutat; 1995; 5(2):186-7. PubMed ID: 7749419
[No Abstract] [Full Text] [Related]
14. An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Richard MM; Erenberg G; Triggs-Raine BL
Biochem Mol Med; 1995 Jun; 55(1):74-6. PubMed ID: 7551830
[TBL] [Abstract][Full Text] [Related]
15. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
Hechtman P; Boulay B; Bayleran J; Andermann E
Clin Genet; 1989 May; 35(5):364-75. PubMed ID: 2527097
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
Narkis G; Adam A; Jaber L; Pennybacker M; Proia RL; Navon R
Hum Mutat; 1997; 10(6):424-9. PubMed ID: 9401004
[TBL] [Abstract][Full Text] [Related]
17. A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
Ohno K; Suzuki K
Biochem Biophys Res Commun; 1988 May; 153(1):463-9. PubMed ID: 2837213
[TBL] [Abstract][Full Text] [Related]
18. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Trop I; Kaplan F; Brown C; Mahuran D; Hechtman P
Hum Mutat; 1992; 1(1):35-9. PubMed ID: 1301189
[TBL] [Abstract][Full Text] [Related]
19. W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Petroulakis E; Cao Z; Clarke JT; Mahuran DJ; Lee G; Triggs-Raine B
Hum Mutat; 1998; 11(6):432-42. PubMed ID: 9603435
[TBL] [Abstract][Full Text] [Related]
20. Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
Ribeiro MG; Pinto R; Miranda MC; Suzuki K
Biochim Biophys Acta; 1995 Jan; 1270(1):44-51. PubMed ID: 7827134
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]