Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
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Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC contentSevere and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case reportThe overdue promise of short tandem repeat variation for heritability.Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3.Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.An update on Spino-cerebellar ataxiasFrom normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.
P2860
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P2860
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Spinocerebellar ataxia type 17 ...... ve analysis of SCA17 genotypes
@nl
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@ast
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@en
type
label
Spinocerebellar ataxia type 17 ...... ve analysis of SCA17 genotypes
@nl
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@ast
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@en
prefLabel
Spinocerebellar ataxia type 17 ...... ve analysis of SCA17 genotypes
@nl
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@ast
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@en
P2093
P2860
P356
P1433
P1476
Spinocerebellar ataxia type 17 ...... e analysis of SCA17 genotypes.
@en
P2093
Andreas Dalski
Eberhard Schwinger
Ulrich Finckh
P2860
P2888
P356
10.1186/1471-2350-6-27
P407
P577
2005-07-01T00:00:00Z
P5875
P6179
1049680128