Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
about
Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population.Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module.Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Loss of Function of KCNC1 is associated with intellectual disability without seizures.Whole-Exome Sequencing Implicates in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
P2860
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
description
2013 nî lūn-bûn
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Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@en
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@nl
type
label
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@en
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@nl
prefLabel
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@en
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@nl
P2093
P2860
P356
P1476
Deletion of chromosome 12q21 a ...... evelopmental delay and ataxia.
@en
P2093
Helen Stewart
Joanna Roberts
Martin Koltzenburg
Michael G Hanna
Sanjeev Rajakulendran
P2860
P304
P356
10.1136/JNNP-2012-304555
P407
P577
2013-03-09T00:00:00Z