A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersFragile X protein in newborn dried blood spotsHeterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.The Repeat Expansion Diseases: The dark side of DNA repair.Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disordersCGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblingsInhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines.Recent advances in assays for the fragile X-related disorders.Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene
P2860
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P2860
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel methylation PCR that o ...... ithout southern blot analysis.
@en
A novel methylation PCR that o ...... ithout southern blot analysis.
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type
label
A novel methylation PCR that o ...... ithout southern blot analysis.
@en
A novel methylation PCR that o ...... ithout southern blot analysis.
@nl
prefLabel
A novel methylation PCR that o ...... ithout southern blot analysis.
@en
A novel methylation PCR that o ...... ithout southern blot analysis.
@nl
P2093
P2860
P1476
A novel methylation PCR that o ...... ithout southern blot analysis.
@en
P2093
Andrew G Hadd
Elena Gennaro
Elles M J Boon
Gary J Latham
Marina Grasso
Patrick A van Bunderen
Stela Filipovic-Sadic
P2860
P356
10.1016/J.JMOLDX.2013.09.004
P577
2013-10-29T00:00:00Z