Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
about
The junctophilin family of proteins: from bench to bedsideAlleviating neurodegeneration in Drosophila models of PolyQ diseases.Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.Impaired pre-mRNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders.Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.A Systematic Review of the Huntington Disease-Like 2 Phenotype.Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Differential diagnosis of Huntington's disease: what the clinician should know.A reference haplotype panel for genome-wide imputation of short tandem repeats
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P2860
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
@en
Huntington disease-like 2
@nl
type
label
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
@en
Huntington disease-like 2
@nl
prefLabel
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
@en
Huntington disease-like 2
@nl
P2093
P2860
P356
P1476
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.
@en
P2093
Irene Paradisi
Sergio Arias
Vassiliki Ikonomu
P2860
P2888
P356
10.1038/JHG.2012.111
P577
2012-09-13T00:00:00Z