Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
about
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.EFNS guidelines on diagnosis and treatment of primary dystonias.Dopa-responsive dystonia--clinical and genetic heterogeneity.Monoamine neurotransmitter disorders--clinical advances and future perspectives.GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
P2860
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P2860
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
description
2006 nî lūn-bûn
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2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@ast
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@en
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@nl
type
label
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@ast
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@en
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@nl
prefLabel
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@ast
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@en
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@nl
P2093
P1433
P1476
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
@en
P2093
Barbara Leube
Birgit Zirn
Daniela Steinberger
Gabriele Wildhardt
Jutta Trübenbach
Ulrich Müller
P2860
P2888
P356
10.1007/S10048-006-0069-6
P577
2006-11-17T00:00:00Z