-
1
-
-
0027941551
-
Identification of a new frameshift mutation (1801delAG) in the ALD gene
-
Barceló A, Giros M, Sarde C-O, Martinez-Bermejo A, Mandel J-L, Pampols T, Estivill X (1994) Identification of a new frameshift mutation (1801delAG) in the ALD gene. Hum Mol Genet 3:1889-1890.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1889-1890
-
-
Barceló, A.1
Giros, M.2
Sarde, C.-O.3
Martinez-Bermejo, A.4
Mandel, J.-L.5
Pampols, T.6
Estivill, X.7
-
2
-
-
0028984934
-
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene
-
Barceló A, Giros M, Sarde C-O, Pintos G, Mandel J-L, Pampols T, Estivill X (1995) De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Hum Genet 95:235-237.
-
(1995)
Hum Genet
, vol.95
, pp. 235-237
-
-
Barceló, A.1
Giros, M.2
Sarde, C.-O.3
Pintos, G.4
Mandel, J.-L.5
Pampols, T.6
Estivill, X.7
-
3
-
-
0021366157
-
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
-
Barker D, Schafer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-138.
-
(1984)
Cell
, vol.36
, pp. 131-138
-
-
Barker, D.1
Schafer, M.2
White, R.3
-
4
-
-
0028566461
-
X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
-
Berger J, Molzer B, Fae I, Bernheimer H (1994) X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205:1638-1643.
-
(1994)
Biochem Biophys Res Commun
, vol.205
, pp. 1638-1643
-
-
Berger, J.1
Molzer, B.2
Fae, I.3
Bernheimer, H.4
-
5
-
-
0028785857
-
Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles
-
Berger J, Bernheimer H, Fae I, Braun A, Roscher A, Molzer B, Fischer G (1995) Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles. Biochem Biophys Res Commun 216:447-451.
-
(1995)
Biochem Biophys Res Commun
, vol.216
, pp. 447-451
-
-
Berger, J.1
Bernheimer, H.2
Fae, I.3
Braun, A.4
Roscher, A.5
Molzer, B.6
Fischer, G.7
-
6
-
-
0028930085
-
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
-
Braun A, Ambach H, Kammerer S, Rolinski B, Stockler S, Rabl W, Gartner J, Zierz S (1995): Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 56:854-861.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 854-861
-
-
Braun, A.1
Ambach, H.2
Kammerer, S.3
Rolinski, B.4
Stockler, S.5
Rabl, W.6
Gartner, J.7
Zierz, S.8
-
7
-
-
0029932602
-
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and applications to mutation detection
-
Braun A, Kammerer S, Ambach H, Roscher A (1996) Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and applications to mutation detection. Hum Mutat 7:105-108.
-
(1996)
Hum Mutat
, vol.7
, pp. 105-108
-
-
Braun, A.1
Kammerer, S.2
Ambach, H.3
Roscher, A.4
-
8
-
-
0027375464
-
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
-
Cartier N, Sarde C-O, Douar A, Mosser J, Mandel J-L, Aubourg P (1993) Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum Mol Genet 2:1949-1951.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1949-1951
-
-
Cartier, N.1
Sarde, C.-O.2
Douar, A.3
Mosser, J.4
Mandel, J.-L.5
Aubourg, P.6
-
9
-
-
0028175513
-
The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
-
Contreras M, Mosser J, Mandel J-L, Aubourg P, Singh I (1994) The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 344:211-215.
-
(1994)
FEBS Lett
, vol.344
, pp. 211-215
-
-
Contreras, M.1
Mosser, J.2
Mandel, J.-L.3
Aubourg, P.4
Singh, I.5
-
10
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper D, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.1
Youssoufian, H.2
-
11
-
-
0027978453
-
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
-
Fanen P, Guidoux S, Sarde C-O, Mandel J-L, Goossens M, Aubourg P (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94:516-520.
-
(1994)
J Clin Invest
, vol.94
, pp. 516-520
-
-
Fanen, P.1
Guidoux, S.2
Sarde, C.-O.3
Mandel, J.-L.4
Goossens, M.5
Aubourg, P.6
-
12
-
-
0029932863
-
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
-
Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde C-O, Mandel J-L, Aubourg P (1996) Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am Hum Genet 58:1135-1144.
-
(1996)
Am Hum Genet
, vol.58
, pp. 1135-1144
-
-
Feigenbaum, V.1
Lombard-Platet, G.2
Guidoux, S.3
Sarde, C.-O.4
Mandel, J.-L.5
Aubourg, P.6
-
13
-
-
0027997360
-
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
-
Fuchs S, Sarde C-O, Wedemann H, Schwinger E, Mandel J-L, Gal A (1994) Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 3:1903-1905.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1903-1905
-
-
Fuchs, S.1
Sarde, C.-O.2
Wedemann, H.3
Schwinger, E.4
Mandel, J.-L.5
Gal, A.6
|