119 related articles for article (PubMed ID: 7749415)
1. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Brown DH; Triggs-Raine BL; McGinniss MJ; Kaback MM
Hum Mutat; 1995; 5(2):173-4. PubMed ID: 7749415
[No Abstract] [Full Text] [Related]
2. 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]
3. Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
Tamasu S; Nishio H; Ayaki H; Lee MJ; Mizutori M; Takeshima Y; Nakamura H; Matsuo M; Maruo T; Sumino K
Kobe J Med Sci; 1999 Dec; 45(6):259-70. PubMed ID: 10985159
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
Drucker L; Golan A; Boles DJ; el Bedour K; Proia RL; Navon R
Hum Mutat; 1997; 9(3):260-4. PubMed ID: 9090529
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
Strasberg P; Warren I; Skomorowski MA; Feigenbaum A
Hum Mutat; 1997; 10(1):82-3. PubMed ID: 9222766
[No Abstract] [Full Text] [Related]
10. 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]
11. Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
Drucker L; Navon R
Hum Mutat; 1993; 2(5):415-7. PubMed ID: 8257995
[No Abstract] [Full Text] [Related]
12. Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Mules EH; Hayflick S; Dowling CE; Kelly TE; Akerman BR; Gravel RA; Thomas GH
Hum Mutat; 1992; 1(4):298-302. PubMed ID: 1301937
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
Keats BJ; Elston RC; Andermann E
Genet Epidemiol; 1987; 4(2):77-85. PubMed ID: 2953646
[TBL] [Abstract][Full Text] [Related]
15. Novel Tay-Sachs disease mutations from China.
Akalin N; Shi HP; Vavougios G; Hechtman P; Lo W; Scriver CR; Mahuran D; Kaplan F
Hum Mutat; 1992; 1(1):40-6. PubMed ID: 1301190
[TBL] [Abstract][Full Text] [Related]
16. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Fernandes MJ; Kaplan F; Clow CL; Hechtman P; Scriver CR
Genet Epidemiol; 1992; 9(3):169-75. PubMed ID: 1387862
[TBL] [Abstract][Full Text] [Related]
17. Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.
Landels EC; Green PM; Ellis IH; Fensom AH; Kaback MM; Lim-Steele J; Zeiger K; Levy N; Bobrow M
J Med Genet; 1993 Jun; 30(6):479-81. PubMed ID: 8326491
[TBL] [Abstract][Full Text] [Related]
18. Tay-Sachs disease and HEXA mutations among Moroccan Jews.
Kaufman M; Grinshpun-Cohen J; Karpati M; Peleg L; Goldman B; Akstein E; Adam A; Navon R
Hum Mutat; 1997; 10(4):295-300. PubMed ID: 9338583
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
Hechtman P; Boulay B; De Braekeleer M; Andermann E; Melançon S; Larochelle J; Prevost C; Kaplan F
Hum Genet; 1992 Dec; 90(4):402-6. PubMed ID: 1483696
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
