Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT

Published:2016-05-23 Issue:8 Volume:37 Page:745-754
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Forny Patrick¹²³,Schnellmann Anne-Sophie¹,Buerer Celine¹,Lutz Seraina¹,Fowler Brian¹,Froese D. Sean¹²,Baumgartner Matthias R.¹²³

Affiliation:

1. Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland

2. radiz - Rare Disease Initiative Zurich; Clinical Research Priority Program for Rare Diseases; University of Zurich; Zurich Switzerland

3. Zurich Center for Integrative Human Physiology; University of Zurich; Zurich Switzerland

Funder

Rare Disease Initiative Zurich (radiz), a clinical research priority program for rare diseases of the University of Zurich, Switzerland

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference50 articles.

1. N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients;Acquaviva;Eur J Hum Genet,2001

2. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut-forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene;Acquaviva;Hum Mutat,2005

3. Seven novel mutations in mut methylmalonic aciduria;Adjalla;Hum Mutat,1998

4. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

5. ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids;Ashkenazy;Nucleic Acids Res,2010

Cited by 39 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. Clinical practice recommendations on kidney management in methylmalonic acidemia: an expert consensus statement from ERKNet and MetabERN;Kidney International Reports;2024-09

2. Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China;Human Genomics;2024-07-29

3. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study;Orphanet Journal of Rare Diseases;2024-05-15

4. A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype;Heliyon;2024-03

5. Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation;JCI Insight;2024-02-22

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