Identification of two new nonsense mutations (Q311X and W326X) in exon 2 of the adrenoleukodystrophy (ALD) gene

Human Mutation

Volumn 8, Issue 3, 1996, Pages 286-287

  Barcelo A ^a   Giros M ^b   Albiach, V J ^e   Vaquerizo, J ^e   Pampols T ^b   Estivill, X ^a,c,d  

^a HOSPITAL CLÍNIC   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c HOSPITAL INFANTA CRISTINA   (Spain)

^d Institut de Recerca Oncologica   (Spain)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; EXON; GENE ISOLATION; HUMAN; HUMAN CELL; MALE; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CYTOSINE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA PRIMERS; EXONS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; NUCLEAR FAMILY; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THYMINE;

EID: 0029842786     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z     Document Type: Article

References (5)

1. Barceló A, Girós M, Sarde CO, Martínez-Bermejo A, Mandel JL, Pampols T, Estivill X (1994) Identification of a new frameshift mutation (1801delAG) in the ALD gene. Hum Mol Genet 3:1889-1890.
2. Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pampols T, Estivill X (1995) De novo missense mutation Y174S in exon 1 of the Adrenoleukodystrophy (ALD) gene. Hum Genet 95:235-237.
3. Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94:516-520.
4. Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A (1994) Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 3:1903-1905.
5. Uchiyama A, Suzuki Y, Song X, Fukao T, Imamura A, Tomatsu S, Shimozawa N, Kondo N, Orii T (1994) Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy. Biochem Biophys Res Commun 198:623-636.