An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants-Reference-Cited by-同舟云学术

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Published:2017-12-13 Issue:2 Volume:41 Page:169-180
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Pop Ana,Williams Monique,Struys Eduard A.,Monné Magnus,Jansen Erwin E. W.,De Grassi Anna,Kanhai Warsha A.,Scarcia Pasquale,Ojeda Matilde R. Fernandez,Porcelli Vito,van Dooren Silvy J. M.,Lennertz Pascal,Nota Benjamin,Abdenur Jose E.,Coman David,Das Anibh Martin,El-Gharbawy Areeg,Nuoffer Jean-Marc,Polic Branka,Santer René,Weinhold Natalie,Zuccarelli Britton,Palmieri Ferdinando,Palmieri Luigi,Salomons Gajja S.

Funder

Fondazione Telethon

Consiglio Nazionale delle Ricerche (IT)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0106-7/fulltext.html

Reference37 articles.

1. Abrams AJ, Hufnagel RB, Rebelo A et al (2015) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet 47:926–932

2. Betsalel OT, Pop A, Rosenberg EH et al (2012) Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. Mol Genet Metab 105:596–601