Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.
about
The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersModeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.Clinical and molecular implications of mosaicism in FMR1 full mutations.The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome.Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyA novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?Tissue-specific methylation differences in a fragile X premutation carrier.Clinical involvement and protein expression in individuals with the FMR1 premutation.
P2860
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P2860
Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.
description
1996 nî lūn-bûn
@nan
1996年の論文
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1996年学术文章
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1996年学术文章
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1996年学术文章
@zh-cn
1996年学术文章
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1996年学术文章
@zh-my
1996年学术文章
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1996年學術文章
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name
Tissue differences in fragile ...... may differ greatly from skin.
@en
Tissue differences in fragile ...... may differ greatly from skin.
@nl
type
label
Tissue differences in fragile ...... may differ greatly from skin.
@en
Tissue differences in fragile ...... may differ greatly from skin.
@nl
prefLabel
Tissue differences in fragile ...... may differ greatly from skin.
@en
Tissue differences in fragile ...... may differ greatly from skin.
@nl
P2093
P1476
Tissue differences in fragile ...... may differ greatly from skin.
@en
P2093
Jenkins EC
Sudhalter V
P2860
P304
P356
10.1002/(SICI)1096-8628(19960809)64:2<296::AID-AJMG13>3.0.CO;2-A
P577
1996-08-01T00:00:00Z