Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
about
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesEscape from X inactivation varies in mouse tissues.The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.MERTK signaling in the retinal pigment epithelium regulates the tyrosine phosphorylation of GDP dissociation inhibitor alpha from the GDI/CHM family of RAB GTPase effectors.Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.
P2860
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
description
im Oktober 2011 veröffentlichter wissenschaftlicher Artikel
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scientific article published on 14 October 2011
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wetenschappelijk artikel
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наукова стаття, опублікована в жовтні 2011
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name
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@en
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@nl
type
label
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@en
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@nl
prefLabel
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@en
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@nl
P2093
P2860
P356
P1476
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
@en
P2093
Andreas Tzschach
Gertrud Strobl-Wildemann
Hans-Hilger Ropers
Klaus Wrogemann
P2860
P304
P356
10.1002/AJMG.A.34291
P407
P577
2011-10-14T00:00:00Z