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Results:
1-7
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Results: 7
Authors:
RUIZ R
COLL MJ
PAMPOLS T
GIROS M
Citation: R. Ruiz et al., X-LINKED ADRENOLEUKODYSTROPHY - PHENOTYPE DISTRIBUTION AND EXPRESSIONOF ALDP IN SPANISH KINDREDS, American journal of medical genetics, 76(5), 1998, pp. 424-427
Authors:
RUIZ M
COLL MJ
PAMPOLS T
GIROS M
Citation: M. Ruiz et al., ALDP EXPRESSION IN FETAL CELLS AND ITS APPLICATION IN PRENATAL-DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY, Prenatal diagnosis, 17(7), 1997, pp. 651-656
Authors:
BARCELO A
GIROS M
ALBIACH VJ
VAQUERIZO J
PAMPOLS T
ESTIVILL X
Citation: A. Barcelo et al., IDENTIFICATION OF 2 NEW NONSENSE MUTATIONS (Q311X AND W326X) IN EXON-2 OF THE ADRENOLEUKODYSTROPHY (ALD) GENE, Human mutation, 8(3), 1996, pp. 286-287
Authors:
RUIZ M
PAMPOLS T
GIROS M
Citation: M. Ruiz et al., GLYCEROL TRIOLEATE GLYCEROL TRIERUCATE THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY - SATURATED AND UNSATURATED FATTY-ACIDS IN BLOOD-CELLS - IMPLICATIONS FOR THE FOLLOW-UP/, Journal of inherited metabolic disease, 19(2), 1996, pp. 188-192
Authors:
BARCELO A
GIROS M
SARDE CO
PINTOS G
MANDEL JL
PAMPOLS T
ESTIVILL X
Citation: A. Barcelo et al., DE-NOVO MISSENSE MUTATION Y174S IN EXON-1 OF THE ADRENOLEUKODYSTROPHY(ALD) GENE, Human genetics, 95(2), 1995, pp. 235-237
Authors:
BARCELO A
GIROS M
SARDE CO
MARTINEZBERMEJO A
MANDEL JL
PAMPOLS T
ESTIVILL X
Citation: A. Barcelo et al., IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (1801DELAG) IN THE ALD GENE, Human molecular genetics, 3(10), 1994, pp. 1889-1890
Authors:
CORIA F
GARCIAVIEJO MA
DELGADO JA
DUARTE J
CLAVERIA LE
GIROS M
PAMPOLS T
Citation: F. Coria et al., DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY PHENOTYPIC VARIANTS, Acta neurologica Scandinavica, 87(6), 1993, pp. 499-502
Risultati:
1-7
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