Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene-Reference-Cited by-同舟云学术

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Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

Published:2013-09 Issue:3 Volume:49 Page:185-190
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Hung Kun-Long,Wang Jinn-Shyan,Keng Wee Teik,Chen Hui-Ju,Liang Jao-Shwann,Ngu Lock Hock,Lu Jyh-Feng

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference31 articles.

1. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management;Engelen;Orphanet J Rare Dis,2012

2. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters;Mosser;Nature,1993

3. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects;Kemp;Biochim Biophys Acta,2012

4. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters;van Roermund;FASEB J,2008

5. ABC transporters: from microorganisms to man;Higgins;Annu Rev Cell Biol,1992

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1. A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in <i>ABCD1</i>;Internal Medicine;2023

2. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype;Parkinsonism & Related Disorders;2021-11

3. Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures;Epilepsy Research;2017-01

4. Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance;Genetic Diagnosis of Endocrine Disorders;2016

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