Results 161 to 170 of about 2,524,227 (174)

NOVEL MUTATIONS IN THE ABCD1 GENE OF TWO TAIWANESE PATIENTS WITH ADRENOLEUKODYSTROPHY

Neuropediatrics, 2006
J Liang, CC Sung, JF Lu
openaire   +1 more source

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2019
Babak Emamalizadeh, Hossein Darvish, Abbas Tafakhori   +2 more
exaly  

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease

Biochemistry and Cell Biology, 2016
Amel Ben Chehida, Hassen Kamoun, Mouna Tabebi   +2 more
exaly  

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

World Journal of Pediatrics, 2015
Xue-Fan Gu, Hui-Wen Zhang, Wen-Juan Qiu
exaly  

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Human Mutation, 2001
Lenka Dvořáková, Jiri Zeman, Gabriela Štorkánová   +2 more
exaly  

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance

Neuromuscular Disorders, 2019
Zhiyv Niu, Michelle L Mauermann, Christopher J. Klein   +2 more
exaly  

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

Human Mutation, 2002
Eberhard Schwinger
exaly  

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective †

Human Mutation, 2000
Johannes Berger, Brunhilde Molzer
exaly  

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
Ryuichiro Sato, Masashi Morita, Tsuneo Imanaka   +2 more
exaly