Matches in SemOpenAlex for { <https://semopenalex.org/work/W2407143359> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2407143359 abstract "Duchenne/Becker muscular dystrophy (DMD/B) is one of the commonest myopathies, with an incidence of 1/3,500 male live births. It is characterized by the slow degeneration of muscle fibres, so that the patient has become an invalid by the age of 10 years, followed by death from respiratory or cardiac failure. It has a sex linked recessive mode of inheritance.The gene causing this disorder is the DMD gene and is found on the short arm of the X chromosome. The commonest mutations of this gene are deletions. Many molecular techniques for study of the disorder have been developed over the years. These include the Southern Blot, polymerase chain reaction (PCR), use of the Short Tandem Repeat (STR), polymorphic length restriction fragments (RFLP), Western Blot for the study of the protein and others.In this paper we review the diagnostic tests most widely used in this disease. These have permitted improved study of the various families affected and thus improved the quality of life of the families at risk." @default.
- W2407143359 created "2016-06-24" @default.
- W2407143359 creator A5041490380 @default.
- W2407143359 creator A5047913764 @default.
- W2407143359 creator A5066715034 @default.
- W2407143359 date "2002-01-01" @default.
- W2407143359 modified "2023-09-27" @default.
- W2407143359 title "Técnicas diagnósticas descritas en el estudio de la distrofia muscular de Duchenne/Becker" @default.
- W2407143359 doi "https://doi.org/10.33588/rn.3403.2001286" @default.
- W2407143359 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12022080" @default.
- W2407143359 hasPublicationYear "2002" @default.
- W2407143359 type Work @default.
- W2407143359 sameAs 2407143359 @default.
- W2407143359 citedByCount "4" @default.
- W2407143359 crossrefType "journal-article" @default.
- W2407143359 hasAuthorship W2407143359A5041490380 @default.
- W2407143359 hasAuthorship W2407143359A5047913764 @default.
- W2407143359 hasAuthorship W2407143359A5066715034 @default.
- W2407143359 hasConcept C104317684 @default.
- W2407143359 hasConcept C126322002 @default.
- W2407143359 hasConcept C133307689 @default.
- W2407143359 hasConcept C168007829 @default.
- W2407143359 hasConcept C187212893 @default.
- W2407143359 hasConcept C2776356578 @default.
- W2407143359 hasConcept C2778943923 @default.
- W2407143359 hasConcept C2779030066 @default.
- W2407143359 hasConcept C2779134260 @default.
- W2407143359 hasConcept C49105822 @default.
- W2407143359 hasConcept C54355233 @default.
- W2407143359 hasConcept C71924100 @default.
- W2407143359 hasConcept C86803240 @default.
- W2407143359 hasConceptScore W2407143359C104317684 @default.
- W2407143359 hasConceptScore W2407143359C126322002 @default.
- W2407143359 hasConceptScore W2407143359C133307689 @default.
- W2407143359 hasConceptScore W2407143359C168007829 @default.
- W2407143359 hasConceptScore W2407143359C187212893 @default.
- W2407143359 hasConceptScore W2407143359C2776356578 @default.
- W2407143359 hasConceptScore W2407143359C2778943923 @default.
- W2407143359 hasConceptScore W2407143359C2779030066 @default.
- W2407143359 hasConceptScore W2407143359C2779134260 @default.
- W2407143359 hasConceptScore W2407143359C49105822 @default.
- W2407143359 hasConceptScore W2407143359C54355233 @default.
- W2407143359 hasConceptScore W2407143359C71924100 @default.
- W2407143359 hasConceptScore W2407143359C86803240 @default.
- W2407143359 hasLocation W24071433591 @default.
- W2407143359 hasLocation W24071433592 @default.
- W2407143359 hasOpenAccess W2407143359 @default.
- W2407143359 hasPrimaryLocation W24071433591 @default.
- W2407143359 hasRelatedWork W1978145597 @default.
- W2407143359 hasRelatedWork W2005203024 @default.
- W2407143359 hasRelatedWork W2023955934 @default.
- W2407143359 hasRelatedWork W2031173877 @default.
- W2407143359 hasRelatedWork W2040786304 @default.
- W2407143359 hasRelatedWork W2088637251 @default.
- W2407143359 hasRelatedWork W2109017602 @default.
- W2407143359 hasRelatedWork W2286489542 @default.
- W2407143359 hasRelatedWork W2369471363 @default.
- W2407143359 hasRelatedWork W2397689267 @default.
- W2407143359 hasRelatedWork W2406931174 @default.
- W2407143359 hasRelatedWork W2409920480 @default.
- W2407143359 hasRelatedWork W2415526464 @default.
- W2407143359 hasRelatedWork W2431704462 @default.
- W2407143359 hasRelatedWork W2440834542 @default.
- W2407143359 hasRelatedWork W2460307565 @default.
- W2407143359 hasRelatedWork W2468870699 @default.
- W2407143359 hasRelatedWork W2561377794 @default.
- W2407143359 hasRelatedWork W3081114181 @default.
- W2407143359 hasRelatedWork W52004065 @default.
- W2407143359 isParatext "false" @default.
- W2407143359 isRetracted "false" @default.
- W2407143359 magId "2407143359" @default.
- W2407143359 workType "article" @default.