High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

Item
http://www.wikidata.org/entity/Q34145392
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxiaSCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6Pedigree parables.Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.Understanding what determines the frequency and pattern of human germline mutations.Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Do CTG expansions at the SCA8 locus cause ataxia?A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia
P2860

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

Item
http://www.wikidata.org/entity/Q34145392
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
High germinal instability of t ...... th expanded and normal alleles
@ast
High germinal instability of t ...... th expanded and normal alleles
@en
High germinal instability of the
@nl
type
label
High germinal instability of t ...... th expanded and normal alleles
@ast
High germinal instability of t ...... th expanded and normal alleles
@en
High germinal instability of the
@nl
prefLabel
High germinal instability of t ...... th expanded and normal alleles
@ast
High germinal instability of t ...... th expanded and normal alleles
@en
High germinal instability of the
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
High germinal instability of t ...... th expanded and normal alleles
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932