Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Psychiatry
Main Authors: Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5658665/
https://ncbi.nlm.nih.gov/pubmed/27457812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2016.109
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados