Results 151 to 157 of about 7,333,851 (157)

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Xiaoxue Shi, Dongsheng Li, Shi Xiaoxue   +2 more
exaly  

Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.

Gene, 2013
E. Brownstone, T. Voigtländer, U. Baumhackl, J. Finsterer   +3 more
semanticscholar   +1 more source

Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.

Human genetics, 2008
openaire   +3 more sources

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations

Journal of Neurochemistry, 2007
Masashi Morita, Takanori Maeda, Nobuyuki Shimozawa   +2 more
exaly  

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

Human Mutation, 2002
Kerstin Kutsche, Eberhard Schwinger
exaly  

Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.

Human genetics, 2009
Neeraj, Kumar, K K, Taneja, Veena, Kalra, Madhuri, Behari, S, Aneja, S K, Bansal   +5 more
openaire   +3 more sources

Molecular analysis of ABCD1 gene in moroccan patients with X-linked adrenoleukodystrophy

Clinica Chimica Acta
F.Z. Madani Benjelloun, Y. Kriouile, D. Cheillan, L. Chabraoui   +3 more
openaire   +1 more source