Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
about
The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neuronsPrioritizing genes for X-linked diseases using population exome data.Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndromeNovel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Downregulation of the creatine transporter SLC6A8 by JAK2.
P2860
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@ast
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@en
type
label
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@ast
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@en
prefLabel
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@ast
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@en
P2093
P2860
P50
P356
P1476
Hybridisation-based resequenci ...... ons in ATRX, SLC6A8 and PQBP1.
@en
P2093
Andreas Tzschach
Andreas W Kuss
Anna Hackett
Arjan P M de Brouwer
Bettina Lipkowitz
Bettina Moser
Christopher Schroeder
Hans-Hilger Ropers
Hilde van Esch
Ilaria Meloni
P2860
P2888
P304
P356
10.1038/EJHG.2010.244
P577
2011-01-26T00:00:00Z