Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Enzyme
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Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Dynamic mutation diseases are genetic diseases caused by unstable repeat expansions in coding region or noncoding region. The unstable repeat expansions located in the noncoding region usually perform as large expansions which the standard PCR assay is difficult to amplify. Traditional detection methods, including Southern blot, are supposed to be time-consuming and labor-wasting. A new method called fluorescent repeat-primed PCR assay was brought into genetic diagnosis. Here, we reviewed the advances in repeat-primed PCR assay for the genetic diagnoses of myotonic dystrophy, Friedreich's ataxia,
SCA10
, and
amyotrophic lateral sclerosis
or frontotemporal dementia caused by C9 or f72 mutations.
...
PMID:[Advances in repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions]. 2556 72
