NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy-Reference-Cited by-同舟云学术

NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Published:2002-07-29 Issue:3 Volume:111 Page:271-284
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lamhonwah Anne-Marie,Olpin Simon E.,Pollitt Rodney J.,Vianey-Saban Christine,Divry Priscille,Guffon Nathalie,Besley Guy T. N.,Onizuka Russell,De Meirleir Linda J.,Cvitanovic-Sojat Ljerka,Baric Ivo,Dionisi-Vici Carlo,Fumic Ksenija,Maradin Miljenka,Tein Ingrid

Publisher

Wiley

Subject

Genetics (clinical)

Reference34 articles.

1. Recommendations for a nomenclature system for human gene mutations

2. CARNITINE

3. Carnitine--metabolism and functions

4. Structure of renal organic anion and cation transporters

5. Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Cited by 104 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. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-07-01

2. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-05-31

3. The Importance of Early Treatment of Inherited Neuromuscular Conditions;Journal of Neuromuscular Diseases;2024-03-05

4. A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features;BMC Cardiovascular Disorders;2024-01-02

5. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening;Frontiers in Genetics;2023-12-06