Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Iqbal, Zafar, Püttmann, Lucia, Musante, Luciana, Razzaq, Attia, Zahoor, Muhammad Yasir, Hu, Hao, Wienker, Thomas F, Garshasbi, Masoud, Fattahi, Zohreh, Gilissen, Christian, Vissers, Lisenka ELM, de Brouwer, Arjan PM, Veltman, Joris A, Pfundt, Rolph, Najmabadi, Hossein, Ropers, Hans-Hilger, Riazuddin, Sheikh, Kahrizi, Kimia, van Bokhoven, Hans
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755381/
https://ncbi.nlm.nih.gov/pubmed/26173967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.148
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados