172 related articles for article (PubMed ID: 7906588)
1. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
Barth ML; Fensom A; Harris A
Hum Mol Genet; 1993 Dec; 2(12):2117-21. PubMed ID: 7906588
[TBL] [Abstract][Full Text] [Related]
2. An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
Regis S; Carrozzo R; Filocamo M; Serra G; Mastropaolo C; Gatti R
Hum Genet; 1995 Aug; 96(2):233-5. PubMed ID: 7635478
[TBL] [Abstract][Full Text] [Related]
3. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
Harvey JS; Nelson PV; Carey WF; Robertson EF; Morris CP
Hum Mutat; 1993; 2(4):261-7. PubMed ID: 8104633
[TBL] [Abstract][Full Text] [Related]
4. Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Coulter-Mackie MB; Gagnier L; Beis MJ; Applegarth DA; Cole DE; Gordon K; Ludman MD
J Med Genet; 1997 Jun; 34(6):493-8. PubMed ID: 9192271
[TBL] [Abstract][Full Text] [Related]
5. Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
Tsuda T; Hasegawa Y; Eto Y
Brain Dev; 1996; 18(5):400-3. PubMed ID: 8891236
[TBL] [Abstract][Full Text] [Related]
6. A new polymorphism of arylsulfatase A within the coding region.
Berger J; Gmach M; Faé I; Molzer B; Bernheimer H
Hum Genet; 1996 Sep; 98(3):348-50. PubMed ID: 8707308
[TBL] [Abstract][Full Text] [Related]
7. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
Barth ML; Fensom A; Harris A
Hum Genet; 1993 Mar; 91(1):73-7. PubMed ID: 8095918
[TBL] [Abstract][Full Text] [Related]
8. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Draghia R; Letourneur F; Drugan C; Manicom J; Blanchot C; Kahn A; Poenaru L; Caillaud C
Hum Mutat; 1997; 9(3):234-42. PubMed ID: 9090526
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
Hasegawa Y; Kawame H; Eto Y
DNA Cell Biol; 1993; 12(6):493-8. PubMed ID: 8101083
[TBL] [Abstract][Full Text] [Related]
10. A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
Regis S; Filocamo M; Stroppiano M; Corsolini F; Gatti R
Clin Genet; 1997 Jul; 52(1):65-7. PubMed ID: 9272717
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Gieselmann V; Fluharty AL; Tønnesen T; Von Figura K
Am J Hum Genet; 1991 Aug; 49(2):407-13. PubMed ID: 1678251
[TBL] [Abstract][Full Text] [Related]
12. Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
Luyten JA; Wenink PW; Steenbergen-Spanjers GC; Wevers RA; Ploos van Amstel HK; de Jong JG; van den Heuvel LP
Hum Genet; 1995 Sep; 96(3):357-60. PubMed ID: 7649558
[TBL] [Abstract][Full Text] [Related]
13. Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
Harvey JS; Carey WF; Nelson PV; Morris CP
Hum Mol Genet; 1994 Jan; 3(1):207. PubMed ID: 7909249
[No Abstract] [Full Text] [Related]
14. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Pastor-Soler NM; Rafi MA; Hoffman JD; Hu D; Wenger DA
Hum Mutat; 1994; 4(3):199-207. PubMed ID: 7833949
[TBL] [Abstract][Full Text] [Related]
15. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
Lissens W; Vervoort R; Van Regemorter N; Van Bogaert P; Freund M; Verellen-Dumoulin C; Seneca S; Liebaers I
J Inherit Metab Dis; 1996; 19(6):782-6. PubMed ID: 8982952
[TBL] [Abstract][Full Text] [Related]
16. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
Kondo R; Wakamatsu N; Yoshino H; Fukuhara N; Miyatake T; Tsuji S
Am J Hum Genet; 1991 May; 48(5):971-8. PubMed ID: 1673291
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Olkhovich NV; Takamura N; Pichkur NA; Gorovenko NG; Aoyagi K; Yamashita S
Mol Genet Metab; 2003 Nov; 80(3):360-3. PubMed ID: 14680985
[TBL] [Abstract][Full Text] [Related]
18. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
Fluharty AL; Fluharty CB; Bohne W; von Figura K; Gieselmann V
Am J Hum Genet; 1991 Dec; 49(6):1340-50. PubMed ID: 1684088
[TBL] [Abstract][Full Text] [Related]
19. An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
Honke K; Kobayashi T; Fujii T; Gasa S; Xu M; Takamaru Y; Kondo R; Tsuji S; Makita A
Hum Genet; 1993 Nov; 92(5):451-6. PubMed ID: 7902317
[TBL] [Abstract][Full Text] [Related]
20. [Molecular analysis of Japanese patients with metachromatic leukodystrophy].
Hasegawa Y; Kawame H; Eto Y
Nihon Rinsho; 1993 Sep; 51(9):2314-8. PubMed ID: 8105116
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]