Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

scientific article (publication date: November 1993)

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/2.11.1949
P698PubMed publication ID7904210

P50authorJean-Louis MandelQ2279559
P2093author name stringC O Sarde
J Mosser
P Aubourg
A M Douar
N Cartier
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectX-linked adrenoleukodystrophyQ366964
P304page(s)1949-51
P577publication date1993-11-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleAbnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
P478volume2

Reverse relations

cites work (P2860)
Q48412572A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report
Q38311284A functional role of intracellular loops of human multidrug resistance protein 1.
Q33733733A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study
Q41245901ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
Q28270437Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil
Q24671055Altered expression of ALDP in X-linked adrenoleukodystrophy
Q37288117Altered expression of genes functioning in lipid homeostasis is associated with lipid deposition in NOD mouse lacrimal gland
Q38359144Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter
Q77986277Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
Q41366940DNA diagnosis of X-linked adrenoleukodystrophy
Q57304742De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene
Q44493853Definition of the domain boundaries is critical to the expression of the nucleotide-binding domains of P-glycoprotein
Q48066768Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy
Q24628731Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
Q28569176Molecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetase
Q28290738Mutational analysis of patients with X-linked adrenoleukodystrophy
Q35882708Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
Q24672808Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
Q70821108Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients
Q77121515Peroxisomal ABC transporters
Q36019193Pharmacogenomics and systems biology of membrane transporters
Q77369612Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy
Q34644825Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
Q24672329Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
Q33544235The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
Q72430225The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
Q48075859Two intronic mutations in the adrenoleukodystrophy gene
Q46981518Uptake and metabolism of plasma-derived erucic acid by rat brain
Q40531407Very long chain fatty acids in higher animals--a review
Q33607735X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
Q48077382cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene

Search more.