These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 1415222)

  • 1. A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
    Ainsworth PJ; Coulter-Mackie MB
    Am J Hum Genet; 1992 Oct; 51(4):802-9. PubMed ID: 1415222
    [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. The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
    Hou Y; Vavougios G; Hinek A; Wu KK; Hechtman P; Kaplan F; Mahuran DJ
    Am J Hum Genet; 1996 Jul; 59(1):52-8. PubMed ID: 8659543
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
    Tanaka A; Ohno K; Sandhoff K; Maire I; Kolodny EH; Brown A; Suzuki K
    Am J Hum Genet; 1990 Feb; 46(2):329-39. PubMed ID: 2137287
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
    Brown CA; Neote K; Leung A; Gravel RA; Mahuran DJ
    J Biol Chem; 1989 Dec; 264(36):21705-10. PubMed ID: 2532211
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
    Ohno K; Suzuki K
    J Biol Chem; 1988 Dec; 263(34):18563-7. PubMed ID: 2973464
    [TBL] [Abstract][Full Text] [Related]  

  • 10. beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
    Brown CA; Mahuran DJ
    Am J Hum Genet; 1993 Aug; 53(2):497-508. PubMed ID: 8328462
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
    Peleg L; Meltzer F; Karpati M; Goldman B
    Biochem Mol Med; 1995 Apr; 54(2):126-32. PubMed ID: 8581357
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
    Fernandes M; Kaplan F; Natowicz M; Prence E; Kolodny E; Kaback M; Hechtman P
    Hum Mol Genet; 1992 Dec; 1(9):759-61. PubMed ID: 1302612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
    Brown CA; Mahuran DJ
    J Biol Chem; 1991 Aug; 266(24):15855-62. PubMed ID: 1831451
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
    Lau MM; Neufeld EF
    J Biol Chem; 1989 Dec; 264(35):21376-80. PubMed ID: 2531748
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
    Akli S; Chelly J; Lacorte JM; Poenaru L; Kahn A
    Genomics; 1991 Sep; 11(1):124-34. PubMed ID: 1837283
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.