Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
about
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersTesting the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.The role of genetics in the establishment and maintenance of the epigenome.Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells.Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expressionMutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disordersMutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Screening for fragile X syndrome: information needs for health planners.Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.Size and methylation mosaicism in males with Fragile X syndrome.Molecular dynamics simulations show how the FMRP Ile304Asn mutation destabilizes the KH2 domain structure and affects its function.
P2860
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P2860
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին 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
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@ast
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@en
type
label
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@ast
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@en
prefLabel
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@ast
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@en
P2093
P2860
P356
P1476
Mosaicism for the fragile X sy ...... e CGG repeat of the FMR1 gene.
@en
P2093
P2860
P304
P356
10.1136/JMG.33.4.338
P407
P577
1996-04-01T00:00:00Z