Matches in SemOpenAlex for { <https://semopenalex.org/work/W28585148> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W28585148 endingPage "144" @default.
- W28585148 startingPage "135" @default.
- W28585148 abstract "Mitochondrial respiratory chain disorders are clinically and genetically heterogeneous. There are several mitochondrial DNA (mtDNA) point mutations responsible for common mitochondrial diseases such as mitochondrial encephalopathy, lactic acidosis, stroke-like events, myoclonic epilepsy and ragged red fibers, neuropathy, ataxia, retinitis pigmentosa, and Leber's hereditary optic neuropathy. As a result of the clinical overlap, it is usually necessary to analyze more than one mutation for a patient suspected of a mitochondrial disorder. Molecular diagnosis is often performed using polymerase chain reaction (PCR)/restriction fragment length polymorphism (RFLP) analysis of the most likely point mutations. However, this method is time-consuming and often produces problems associated with incomplete restriction enzyme digestion. In addition, PCR/RFLP analysis may not be able to detect a low percentage of heteroplasmy. For a more effective method of diagnosing mtDNA disorders, we have developed a multiplex PCR/ allele-specific oligonucleotide (ASO) dot blot hybridization method to simultaneously analyze 11 point mutations. The PCR products from a DNA sample containing a homoplasmic wild-type or mutant mtDNA sequence will hybridize to either the wild-type or the mutant ASO probe. The PCR products of a heteroplasmic DNA sample will hybridize to both wild-type and mutant ASO probes. This PCR/ASO method allows the detection of low percentage mutant heteroplasmy." @default.
- W28585148 created "2016-06-24" @default.
- W28585148 creator A5000022515 @default.
- W28585148 creator A5077794715 @default.
- W28585148 creator A5088228748 @default.
- W28585148 date "2006-09-07" @default.
- W28585148 modified "2023-09-24" @default.
- W28585148 title "Molecular Analysis of Mitochondrial DNA Point Mutations by Polymerase Chain Reaction" @default.
- W28585148 cites W1831122300 @default.
- W28585148 cites W1897607929 @default.
- W28585148 cites W1957195867 @default.
- W28585148 cites W2014813076 @default.
- W28585148 cites W2041922226 @default.
- W28585148 cites W2065246627 @default.
- W28585148 cites W2076180090 @default.
- W28585148 cites W2159479663 @default.
- W28585148 cites W2441169881 @default.
- W28585148 cites W62962787 @default.
- W28585148 doi "https://doi.org/10.1385/1-59745-074-x:135" @default.
- W28585148 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16916259" @default.
- W28585148 hasPublicationYear "2006" @default.
- W28585148 type Work @default.
- W28585148 sameAs 28585148 @default.
- W28585148 citedByCount "3" @default.
- W28585148 countsByYear W285851482012 @default.
- W28585148 countsByYear W285851482015 @default.
- W28585148 crossrefType "book-chapter" @default.
- W28585148 hasAuthorship W28585148A5000022515 @default.
- W28585148 hasAuthorship W28585148A5077794715 @default.
- W28585148 hasAuthorship W28585148A5088228748 @default.
- W28585148 hasConcept C104317684 @default.
- W28585148 hasConcept C128319531 @default.
- W28585148 hasConcept C143065580 @default.
- W28585148 hasConcept C153911025 @default.
- W28585148 hasConcept C168007829 @default.
- W28585148 hasConcept C176944494 @default.
- W28585148 hasConcept C181561989 @default.
- W28585148 hasConcept C20682886 @default.
- W28585148 hasConcept C24586158 @default.
- W28585148 hasConcept C2777614518 @default.
- W28585148 hasConcept C28859421 @default.
- W28585148 hasConcept C3020761558 @default.
- W28585148 hasConcept C49105822 @default.
- W28585148 hasConcept C54355233 @default.
- W28585148 hasConcept C552990157 @default.
- W28585148 hasConcept C86803240 @default.
- W28585148 hasConcept C90583042 @default.
- W28585148 hasConceptScore W28585148C104317684 @default.
- W28585148 hasConceptScore W28585148C128319531 @default.
- W28585148 hasConceptScore W28585148C143065580 @default.
- W28585148 hasConceptScore W28585148C153911025 @default.
- W28585148 hasConceptScore W28585148C168007829 @default.
- W28585148 hasConceptScore W28585148C176944494 @default.
- W28585148 hasConceptScore W28585148C181561989 @default.
- W28585148 hasConceptScore W28585148C20682886 @default.
- W28585148 hasConceptScore W28585148C24586158 @default.
- W28585148 hasConceptScore W28585148C2777614518 @default.
- W28585148 hasConceptScore W28585148C28859421 @default.
- W28585148 hasConceptScore W28585148C3020761558 @default.
- W28585148 hasConceptScore W28585148C49105822 @default.
- W28585148 hasConceptScore W28585148C54355233 @default.
- W28585148 hasConceptScore W28585148C552990157 @default.
- W28585148 hasConceptScore W28585148C86803240 @default.
- W28585148 hasConceptScore W28585148C90583042 @default.
- W28585148 hasLocation W285851481 @default.
- W28585148 hasLocation W285851482 @default.
- W28585148 hasOpenAccess W28585148 @default.
- W28585148 hasPrimaryLocation W285851481 @default.
- W28585148 hasRelatedWork W1872562 @default.
- W28585148 hasRelatedWork W1964114495 @default.
- W28585148 hasRelatedWork W1976625167 @default.
- W28585148 hasRelatedWork W1981550349 @default.
- W28585148 hasRelatedWork W1986171599 @default.
- W28585148 hasRelatedWork W1990898556 @default.
- W28585148 hasRelatedWork W2002684118 @default.
- W28585148 hasRelatedWork W2031669290 @default.
- W28585148 hasRelatedWork W2054667687 @default.
- W28585148 hasRelatedWork W2060422855 @default.
- W28585148 hasRelatedWork W2082548421 @default.
- W28585148 hasRelatedWork W2108126406 @default.
- W28585148 hasRelatedWork W2138491006 @default.
- W28585148 hasRelatedWork W2155233938 @default.
- W28585148 hasRelatedWork W2155459861 @default.
- W28585148 hasRelatedWork W2156210210 @default.
- W28585148 hasRelatedWork W2363012056 @default.
- W28585148 hasRelatedWork W2387485197 @default.
- W28585148 hasRelatedWork W2406850240 @default.
- W28585148 hasRelatedWork W2439822026 @default.
- W28585148 isParatext "false" @default.
- W28585148 isRetracted "false" @default.
- W28585148 magId "28585148" @default.
- W28585148 workType "book-chapter" @default.