439 related articles for article (PubMed ID: 9856491)
1. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Fujimaru M; Tanaka A; Choeh K; Wakamatsu N; Sakuraba H; Isshiki G
Hum Genet; 1998 Oct; 103(4):462-9. PubMed ID: 9856491
[TBL] [Abstract][Full Text] [Related]
2. Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.
Nakano T; Suzuki K
J Biol Chem; 1989 Mar; 264(9):5155-8. PubMed ID: 2522450
[TBL] [Abstract][Full Text] [Related]
3. A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
Wakamatsu N; Kobayashi H; Miyatake T; Tsuji S
J Biol Chem; 1992 Feb; 267(4):2406-13. PubMed ID: 1531140
[TBL] [Abstract][Full Text] [Related]
4. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.
Yoshizawa T; Kohno Y; Nissato S; Shoji S
J Neurol Sci; 2002 Mar; 195(2):129-38. PubMed ID: 11897243
[TBL] [Abstract][Full Text] [Related]
5. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.
Dlott B; d'Azzo A; Quon DV; Neufeld EF
J Biol Chem; 1990 Oct; 265(29):17921-7. PubMed ID: 2170400
[TBL] [Abstract][Full Text] [Related]
6. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
[TBL] [Abstract][Full Text] [Related]
7. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
McInnes B; Potier M; Wakamatsu N; Melancon SB; Klavins MH; Tsuji S; Mahuran DJ
J Clin Invest; 1992 Aug; 90(2):306-14. PubMed ID: 1386607
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I; Mahuran DJ; Salvayre R; Dubas F; Levade T
Biochim Biophys Acta; 1996 Nov; 1317(2):127-33. PubMed ID: 8950198
[TBL] [Abstract][Full Text] [Related]
10. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
Furihata K; Drousiotou A; Hara Y; Christopoulos G; Stylianidou G; Anastasiadou V; Ueno I; Ioannou P
Hum Mutat; 1999; 13(1):38-43. PubMed ID: 9888387
[TBL] [Abstract][Full Text] [Related]
11. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.
Brown CA; McInnes B; de Kremer RD; Mahuran DJ
Biochim Biophys Acta; 1992 Oct; 1180(1):91-8. PubMed ID: 1390948
[TBL] [Abstract][Full Text] [Related]
12. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
13. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
Hennig EE; Conney AH; Wei SJ
Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of human acatalasemia. Identification of a splicing mutation.
Wen JK; Osumi T; Hashimoto T; Ogata M
J Mol Biol; 1990 Jan; 211(2):383-93. PubMed ID: 2308162
[TBL] [Abstract][Full Text] [Related]
15. Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.
Mitsuo K; Nakano T; Kobayashi T; Goto I; Taniike M; Suzuki K
J Neurol Sci; 1990 Sep; 98(2-3):277-86. PubMed ID: 2147031
[TBL] [Abstract][Full Text] [Related]
16. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.
O'Neill JP; Rogan PK; Cariello N; Nicklas JA
Mutat Res; 1998 Nov; 411(3):179-214. PubMed ID: 9804951
[TBL] [Abstract][Full Text] [Related]
17. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
Santoro M; Modoni A; Sabatelli M; Madia F; Piemonte F; Tozzi G; Ricci E; Tonali PA; Silvestri G
Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047
[TBL] [Abstract][Full Text] [Related]
18. Effect of 5' splice site mutations on splicing of the preceding intron.
Talerico M; Berget SM
Mol Cell Biol; 1990 Dec; 10(12):6299-305. PubMed ID: 2247057
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency.
Li M; Kuivenhoven JA; Ayyobi AF; Pritchard PH
Biochim Biophys Acta; 1998 Mar; 1391(2):256-64. PubMed ID: 9555046
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]