Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

Author:

Krasemann Ernst W.,Meier V.,Korenke G. C.,Hunneman D. H.,Hanefeld F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Barcelo A, Giros M, Sarde C-O, Martinez-Bermejo A, Mandel J-L, Pampols T, Estivill X (1994) Identification of a new frameshift mutation (1801 delAG) in the ALD gene. Hum Mol Genet 3:1889–1890

2. 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

3. Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA (1995) Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 56:854–861

4. Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P (1993) Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum Mol Genet 2:1949–1951

5. Devoto M, Ronchetto P, Fanen P, Telleria Orriols JJ, Romeo G, Goossens M, Ferari M, Magnani C, Seia M, Cremonesi L (1991) Screening for non deltaF508 mutations in 5 exons of the CFTR-gene in Italy. Am J Hum Genet 48:1127–1132

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