162 related articles for article (PubMed ID: 2824459)
1. A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.
Myerowitz R; Hogikyan ND
J Biol Chem; 1987 Nov; 262(32):15396-9. PubMed ID: 2824459
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
Myerowitz R; Costigan FC
J Biol Chem; 1988 Dec; 263(35):18587-9. PubMed ID: 2848800
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation.
Paw BH; Neufeld EF
J Biol Chem; 1988 Feb; 263(6):3012-5. PubMed ID: 2449434
[TBL] [Abstract][Full Text] [Related]
8. Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation.
Kaplan F; Boulay B; Bayleran J; Hechtman P
J Inherit Metab Dis; 1991; 14(5):707-14. PubMed ID: 1838124
[TBL] [Abstract][Full Text] [Related]
9. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Korneluk RG; Mahuran DJ; Neote K; Klavins MH; O'Dowd BF; Tropak M; Willard HF; Anderson MJ; Lowden JA; Gravel RA
J Biol Chem; 1986 Jun; 261(18):8407-13. PubMed ID: 3013851
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
Myerowitz R; Proia RL
Proc Natl Acad Sci U S A; 1984 Sep; 81(17):5394-8. PubMed ID: 6236461
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
Navon R; Proia RL
Am J Hum Genet; 1991 Feb; 48(2):412-9. PubMed ID: 1825014
[TBL] [Abstract][Full Text] [Related]
14. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Myerowitz R
Proc Natl Acad Sci U S A; 1988 Jun; 85(11):3955-9. PubMed ID: 3375249
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
Norflus F; Yamanaka S; Proia RL
DNA Cell Biol; 1996 Feb; 15(2):89-97. PubMed ID: 8634145
[TBL] [Abstract][Full Text] [Related]
18. Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Proia RL
Proc Natl Acad Sci U S A; 1988 Mar; 85(6):1883-7. PubMed ID: 2964638
[TBL] [Abstract][Full Text] [Related]
19. Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Tomczak J; Grebner EE
Hum Mutat; 1994; 4(1):71-2. PubMed ID: 7951261
[No Abstract] [Full Text] [Related]
20. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
McInnes B; Brown CA; Mahuran DJ
Biochim Biophys Acta; 1992 Apr; 1138(4):315-7. PubMed ID: 1532910
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]