Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
about
Molecular genetics and genetic testing in myotonic dystrophy type 1.CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesPaternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Repeat instability: mechanisms of dynamic mutations.Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance studyEffects of Replication and Transcription on DNA Structure-Related Genetic InstabilityApplication of FTA sample collection and DNA purification system on the determination of CTG trinucleotide repeat size by PCR-based Southern blotting.Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells.250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.Survival and CTG repeat expansion in adults with myotonic dystrophy type 1
P2860
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P2860
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@en
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@nl
type
label
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@en
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@nl
prefLabel
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@en
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@nl
P2093
P50
P356
P1476
Progression of somatic CTG rep ...... of myotonic dystrophy patients
@en
P2093
K J Johnson
L Martorell
P304
P356
10.1093/HMG/7.2.307
P577
1998-02-01T00:00:00Z