FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
about
Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeThe fragile X gene and its functionUnusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Biology of the fragile X mental retardation protein, an RNA-binding protein.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.FMRP detection assay for the diagnosis of the fragile X syndrome.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencySIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndromeFORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.In vitro reactivation of the FMR1 gene involved in fragile X syndrome.Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
P2860
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P2860
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@ast
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@en
type
label
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@ast
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@en
prefLabel
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@ast
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@en
P2093
P2860
P356
P1476
FMR1 fully expanded mutation w ...... gh functioning fragile X male.
@en
P2093
P2860
P304
P356
10.1136/JMG.33.5.376
P407
P577
1996-05-01T00:00:00Z