Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
Author:
Funder
King Abdulaziz City for Science and Technology
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference43 articles.
1. Genetic causes of rickets;Acar;J. Clin. Res. Pediatr. Endocrinol.,2017
2. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets;Carpenter;Pediatr. Clin. N. Am.,1997
3. Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets;Guven;Clin. Endocrinol.,2017
4. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: novel mutations in PHEX and SLC34A3;Acar;PLoS One,2018
5. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets;Francis;Genome Res.,1997
Cited by 22 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. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene;Genes;2024-05-24
2. Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay;Frontiers in Genetics;2024-05-22
3. Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia;The Journal of Clinical Endocrinology & Metabolism;2024-05-09
4. X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia;Bone Reports;2024-03
5. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report;Journal of Pediatric Endocrinology and Metabolism;2022-11-10
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