Eight novelABCD1gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange-Reference-Cited by-同舟云学术

Eight novelABCD1gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Published:2001-07 Issue:1 Volume:18 Page:52-60
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Dvoráková L.,Štorkánová G.,Unterrainer G.,Hujová J.,Kmoch S.,Zeman J.,Hrebícek M.,Berger J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference43 articles.

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2. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes;Berger Molzer Fae Bernheimer;Biochem Biophys Res Commun,1994

3. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy;Boehm Cutting Lachtermacher Moser Chong;Mol Genet Metab,1999

4. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency;Bowling McGown McGill Cowley Tuchman;Am J Med Genet,1999

5. Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection;Braun Kammerer Ambach Roscher;Hum Mutat,1996

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