Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Keywords

Genetics, Library science, Biology, Computer science

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Cited by

• Molecular analysis of X-linked adrenoleukodystrophy patients.Antonio Anzizu Furest — 1995
• Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oilHugo W. Moser, James M. Powers, Kirby D. Smith — 1995
• Effects of Exogenous Hexacosanoic Acid on Biochemical Myelin Composition in Weaning and Post-Weaning RatsAntonella Di Biase, C. Avellino, Fernando Pieroni — 1997
• X-Linked Adrenoleukodystrophy: Genes, Mutations, and PhenotypesKirby D. Smith, Stephan Kemp, Lelita T. Braiterman — 2004
• Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.Valérie Feigenbaum, G Lombard-Platet, Sylvie Guidoux — 1996
• Altered expression of ALDP in X-linked adrenoleukodystrophy.Paul A. Watkins, Stephen J. Gould, Marilyn A. Smith — 1995
• Homo- and Heterodimerization of Peroxisomal ATP-binding Cassette Half-transporters*Lang Xia Liu, Katy Janvier, Véronique Berteaux‐Lecellier — 1999
• Mapping of the loci for mental retardation syndromes in the distal Xq.Malgorzata Schmidt — 1996
• Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients.Georg Christoph Korenke, Petra J. W. Pouwels, Jens Frahm — 1996
• Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleucodystrophyNeeraj Kumar, Krishna K. Taneja, Atul Kumar — 2010
• DNA diagnosis of X-linked adrenoleukodystrophySara Seneca, Willy Lissens — 1995
• Identification of New Mutations in Israeli Patients with X-Linked AdrenoleukodystrophySylvia Neumann, Alicia Topper, Hana Mandel — 2001
• Inthrathecal IgA Synthesis in X-Linked Cerebral AdrenoleukodystrophyGeorg Christoph Korenke, Hansotto Reiber, D. H. Hunneman — 1997
• Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathyErnst Krasemann, Volker Meier, GC Korenke — 1996
• Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera — 2002
• Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase*Atsushi Uchiyama, Toshifumi Aoyama, Keiju Kamijo — 1996
• Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system.Françoise Fouquet, Jia Min Zhou, Evelyn Ralston — 1997
• Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotypeGC Korenke, Ekkehard Wilichowski, D. H. Hunneman — 1996
• Novel missense and frameshift mutations in the adrenoleukodystrophy geneHisao Ueyama, Tsunekazu Yamano, Morimi Shimada — 1996
• Comparison of female and male interstitial deletions in the distal Xq.Malgorzata Schmidt — 1996

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