144 related articles for article (PubMed ID: 7849718)
1. Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Barceló A; Girós M; Sarde CO; Martínez-Bermejo A; Mandel JL; Pàmpols T; Estivill X
Hum Mol Genet; 1994 Oct; 3(10):1889-90. PubMed ID: 7849718
[No Abstract] [Full Text] [Related]
2. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V; Lombard-Platet G; Guidoux S; Sarde CO; Mandel JL; Aubourg P
Am J Hum Genet; 1996 Jun; 58(6):1135-44. PubMed ID: 8651290
[TBL] [Abstract][Full Text] [Related]
3. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.
Kemp S; Mooyer PA; Bolhuis PA; van Geel BM; Mandel JL; Barth PG; Aubourg P; Wanders RJ
J Inherit Metab Dis; 1996; 19(5):667-74. PubMed ID: 8892025
[TBL] [Abstract][Full Text] [Related]
4. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S; Sarde CO; Wedemann H; Schwinger E; Mandel JL; Gal A
Hum Mol Genet; 1994 Oct; 3(10):1903-5. PubMed ID: 7849723
[No Abstract] [Full Text] [Related]
5. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Mosser J; Douar AM; Sarde CO; Kioschis P; Feil R; Moser H; Poustka AM; Mandel JL; Aubourg P
Nature; 1993 Feb; 361(6414):726-30. PubMed ID: 8441467
[TBL] [Abstract][Full Text] [Related]
6. Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
Ueyama H; Yamano T; Shimada M; Ohkubo I
Jpn J Hum Genet; 1996 Dec; 41(4):407-11. PubMed ID: 9088111
[No Abstract] [Full Text] [Related]
7. Mutations in the adrenoleukodystrophy gene.
Dodd A; Rowland SA; Hawkes SL; Kennedy MA; Love DR
Hum Mutat; 1997; 9(6):500-11. PubMed ID: 9195223
[TBL] [Abstract][Full Text] [Related]
8. Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA; Gould SJ; Smith MA; Braiterman LT; Wei HM; Kok F; Moser AB; Moser HW; Smith KD
Am J Hum Genet; 1995 Aug; 57(2):292-301. PubMed ID: 7668254
[TBL] [Abstract][Full Text] [Related]
9. Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
Barceló A; Girós M; Albiach VJ; Vaquerizo J; Pàmpols T; Estivill X
Hum Mutat; 1996; 8(3):286-7. PubMed ID: 8889593
[No Abstract] [Full Text] [Related]
10. Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Braun A; Kammerer S; Ambach H; Roscher AA
Hum Mutat; 1996; 7(2):105-8. PubMed ID: 8829626
[TBL] [Abstract][Full Text] [Related]
11. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P; Guidoux S; Sarde CO; Mandel JL; Goossens M; Aubourg P
J Clin Invest; 1994 Aug; 94(2):516-20. PubMed ID: 8040304
[TBL] [Abstract][Full Text] [Related]
12. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
Holzinger A; Maier E; Stöckler-Ipsiroglu S; Braun A; Roscher AA
Clin Genet; 1998 Jun; 53(6):482-7. PubMed ID: 9712540
[TBL] [Abstract][Full Text] [Related]
13. Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Imamura A; Suzuki Y; Song XQ; Fukao T; Uchiyama A; Shimozawa N; Kamijo K; Hashimoto T; Orii T; Kondo N
Clin Genet; 1997 May; 51(5):322-5. PubMed ID: 9212180
[TBL] [Abstract][Full Text] [Related]
14. cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.
Sarde CO; Thomas J; Sadoulet H; Garnier JM; Mandel JL
Mamm Genome; 1994 Dec; 5(12):810-3. PubMed ID: 7894167
[No Abstract] [Full Text] [Related]
15. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Lombard-Platet G; Savary S; Sarde CO; Mandel JL; Chimini G
Proc Natl Acad Sci U S A; 1996 Feb; 93(3):1265-9. PubMed ID: 8577752
[TBL] [Abstract][Full Text] [Related]
16. First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
Korenke GC; Krasemann E; Meier V; Beuche W; Hunneman DH; Hanefeld F
Hum Mutat; 1998; Suppl 1():S204-6. PubMed ID: 9452087
[No Abstract] [Full Text] [Related]
17. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
Ligtenberg MJ; Kemp S; Sarde CO; van Geel BM; Kleijer WJ; Barth PG; Mandel JL; van Oost BA; Bolhuis PA
Am J Hum Genet; 1995 Jan; 56(1):44-50. PubMed ID: 7825602
[TBL] [Abstract][Full Text] [Related]
18. Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein.
Jorge P; Brites P; Nogueira A; Aubourg P
Ann N Y Acad Sci; 1996 Dec; 804():756-9. PubMed ID: 8993616
[No Abstract] [Full Text] [Related]
19. X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M; Köhler W; Brennemann W; Boese V; Sokolowski P; Bidlingmaier F; Ludwig M
Hum Genet; 1999; 105(1-2):116-9. PubMed ID: 10480364
[TBL] [Abstract][Full Text] [Related]
20. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira MG; Mottes M; Pignatti PF; Medica I; Uziel G; Cappa M; Bertini E; Rizzuto N; Salviati A
Hum Mutat; 2000 Sep; 16(3):271. PubMed ID: 10980539
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
