Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome

Published:2016-05-11 Issue:1 Volume:31 Page:e11-e13
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Bueno E.¹²,Cañueto J.²³,García-Patos V.⁴,Vicente M. Asunción⁵,Bodet-Castillo D.⁴,Hernández-Ruíz M. Eugenia⁴,González-Sarmiento R.¹²

Affiliation:

1. Molecular Medicine Unit; Faculty of Medicine; University of Salamanca; Salamanca Spain

2. IBSAL (Instituto de Investigación biomédica de Salamanca); University Hospital of Salamanca; Salamanca Spain

3. Department of Dermatology; University Hospital of Salamanca; Salamanca Spain

4. Department of Dermatology; Hospital Vall d'Hebrón; Barcelona Spain

5. Department of Dermatology; Hospital San Joan de Déu; Esplugues de Llobregat Barcelona Spain

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13584/fullpdf

Reference7 articles.

1. Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant;Inhoff;Arch Dermatol,2011

2. Ichthyosis prematurity syndrome: a case report and review of known mutations;Kiely;Pediatr Dermatol,2014

3. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome;Klar;Am J Hum Genet,2009

4. Role of fatty acid transporters in epidermis: implications for health and disease;Khnykin;Dermatoendocrinol,2011

5. A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association;Melin;J Hum Genet,2006

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. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis;Dermatology and Therapy;2024-08-07

2. Disorders of fatty acid homeostasis;Journal of Inherited Metabolic Disease;2024-05

3. Investigating the genealogy of the literature on digital pathology: a two-dimensional bibliometric approach;Scientometrics;2022-01-11

4. Visual Diagnosis: Unusual Skin Findings in a Premature Infant;Pediatrics In Review;2021-06-01

5. Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide;Proceedings of the National Academy of Sciences;2020-01-23

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