ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference26 articles.
1. CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy;Barbier;PLoS One,2012
2. Identification of a new frameshift mutation (1801delAG) in the ALD gene;Barceló;Hum. Mol. Genet.,1994
3. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes;Berger;Biochem. Biophys. Res. Commun.,1994
4. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency;Bowling;Am. J. Med. Genet.,1999
5. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes;Braun;Am. J. Hum. Genet.,1995
Cited by 12 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 Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature;International Journal of Endocrinology;2022-02-07
2. Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child;Indian Journal of Ophthalmology;2022
3. Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy;Molecular Genetics & Genomic Medicine;2021-11-26
4. Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene;Psychiatric Genetics;2021-08-03
5. A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers;Genes;2021-05-19
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3