Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient-Reference-Cited by-同舟云学术

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Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

Published:2015-08 Issue: Volume:97 Page:7-12
ISSN:0168-0102
Container-title:Neuroscience Research
language:en
Short-container-title:Neuroscience Research

Author:

Kallabi Fakhri,Hadj Salem Ikhlass,Ben Chehida Amel,Ben Salah Ghada,Ben Turkia Hadhami,Tebib Neji,Keskes Leila,Kamoun Hassen

Funder

Tunisian Ministry of Higher Education and Scientific Research

Publisher

Elsevier BV

Subject

General Medicine,General Neuroscience

Reference31 articles.

1. X-Linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients;Amorosi;PLoS ONE,2012

2. Exon recognition in vertebrate splicing;Berget;J. Biol. Chem.,1995

3. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening;Bezman;Ann. Neurol.,2001

4. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy;Boehm;Mol. Genet. Metab.,1999

5. Using profiles based on nucleotide hydrophobicity to define essential regions for splicing;Boldina;Int. J. Biol. Sci.,2009

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1;Journal of Clinical Medicine;2023-01-06

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

3. PEIJ_PIEJ DB: A Putative Database for Intron Retention;2022-08-25

4. A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy;Case Reports in Genetics;2019-12-31

5. Loss of function mutations in essential genes cause embryonic lethality in pigs;PLOS Genetics;2019-03-15

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