Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.

Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.

Item
http://www.wikidata.org/entity/Q48134264
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.New founder haplotypes at the myotonic dystrophy locus in southern Africa.De novo myotonic dystrophy mutation in a Nigerian kindred.Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies.Segregation distortion of the CTG repeats at the myotonic dystrophy locus.The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency.Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Application of FTA sample collection and DNA purification system on the determination of CTG trinucleotide repeat size by PCR-based Southern blotting.Myotonic dystrophy: will the real gene please step forward!Normal variation at the myotonic dystrophy locus in global human populations.CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.CTG repeat polymorphism in DMPK gene in healthy Yugoslav population.Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
P2860

Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.

Item
http://www.wikidata.org/entity/Q48134264
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh-hant
name
Characterization and polymeras ...... brium with myotonic dystrophy.
@en
Characterization and polymerase chain reaction
@nl
type
label
Characterization and polymeras ...... brium with myotonic dystrophy.
@en
Characterization and polymerase chain reaction
@nl
prefLabel
Characterization and polymeras ...... brium with myotonic dystrophy.
@en
Characterization and polymerase chain reaction
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Characterization and polymeras ...... brium with myotonic dystrophy.
@en
P2093
P304
P31
P356
P433
P478
P577
P698