Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Linkage of adrenoleukodystrophy to a polymorphic DNA probe
2. Identification of a new frameshift mutation (1801delAG) in the ALD gene
3. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
4. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
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1. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy;Genome Medicine;2013-06
2. Molecular diagnosis of X-linked adrenoleukodystrophy: Experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations;Clinica Chimica Acta;2011-05
3. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene;Clinical Genetics;2008-06-28
4. Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy;Clinical Chemistry and Laboratory Medicine;2008-01-01
5. ABCD1 Gene Mutations in Chinese Patients With X-Linked Adrenoleukodystrophy;Pediatric Neurology;2005-08
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