Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
about
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesArray-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsNovel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Intracellular spermine blocks TRPC4 channel via electrostatic interaction with C-terminal negative amino acids.TRPC Channels and Mental Disorders.
P2860
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
description
article
@en
im August 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2014
@uk
ലേഖനം
@ml
name
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@en
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@nl
type
label
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@en
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@nl
prefLabel
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@en
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@nl
P2093
P2860
P356
P1476
Intragenic rearrangements in X ...... KLHL15 as potential XLID genes
@en
P2093
André Mégarbané
Catherine Badens
Chantal Missirian
Cécile Mignon-Ravix
Mathieu Milh
Nadine Girard
Nancy Choucair
Nicole Philip
Pierre Cacciagli
Sabine Sigaudy
P2860
P304
P356
10.1002/AJMG.A.36602
P407
P577
2014-05-09T00:00:00Z