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Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRPEmerging pharmacologic treatment options for fragile X syndromeThe unstable repeats--three evolving faces of neurological diseaseC9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome due to a missense mutation.Increasing our understanding of human cognition through the study of Fragile X Syndrome.A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.A quantitative homogeneous assay for fragile X mental retardation 1 protein.Fragile X syndrome and fragile X-associated disorders.Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.Rare FMR1 gene mutations causing fragile X syndrome: A review.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A nonsense mutation in FMR1 causing fragile X syndrome.
@ast
A nonsense mutation in FMR1 causing fragile X syndrome.
@en
A nonsense mutation in FMR1 causing fragile X syndrome.
@nl
type
label
A nonsense mutation in FMR1 causing fragile X syndrome.
@ast
A nonsense mutation in FMR1 causing fragile X syndrome.
@en
A nonsense mutation in FMR1 causing fragile X syndrome.
@nl
prefLabel
A nonsense mutation in FMR1 causing fragile X syndrome.
@ast
A nonsense mutation in FMR1 causing fragile X syndrome.
@en
A nonsense mutation in FMR1 causing fragile X syndrome.
@nl
P2093
P2860
P356
P1476
A nonsense mutation in FMR1 causing fragile X syndrome.
@en
P2093
Alma Dedic
Karen Brøndum-Nielsen
Karen Grønskov
P2860
P2888
P304
P356
10.1038/EJHG.2010.223
P577
2011-01-26T00:00:00Z