Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Published:2002-03 Issue:3 Volume:70 Page:612-624
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Motley Alison M.,Brites Pedro,Gerez Lisya,Hogenhout Eveline,Haasjes Janet,Benne Rob,Tabak Henk F.,Wanders Ronald J.A.,Waterham Hans R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. A new 34 kilodalton isoform of human fibroblast growth factor 2 is cap dependently synthesized by using a non-AUG start codon and behaves as a survival factor;Arnaud;Mol Cell Biol,1999

2. Variant RCDP with normal phytanic acid: clinico-biochemical delineation of a subtype and complementation studies;Barth;Am J Med Genet,1996

3. Clinical approach to inherited peroxisomal disorders: a series of 27 patients;Baumgartner;Ann Neurol,1998

4. PEX7 gene structure, alternative transcripts and evidence for a founder haplotype for the frequent RCDP allele L292ter;Braverman;Genomics,2000

5. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata;Braverman;Nat Genet,1997

Cited by 89 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. Rapid-Onset Obsessive-Compulsive Disorder With Hallucinations in a Post-seizure Four-Year-Old Male;Cureus;2024-06-18

2. Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination;Journal of Biological Chemistry;2024-05

3. Asymmetric Distribution of Plasmalogens and Their Roles—A Mini Review;Membranes;2023-08-29

4. The physiological functions of human peroxisomes;Physiological Reviews;2023-01-01

5. CRISPR-free, programmable RNA pseudouridylation to suppress premature termination codons;Molecular Cell;2023-01

同舟云学术

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