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Items for "mutation analysis"

Genomic diagnosis of thrombophilia in women: clinical relevance

The detection of the DNA-sequence of human coagulation factors and inhibitors has introduced the possibility of differentiated mutation analysis in patients with venous thrombosis...

Keywords: Thrombophilie, Mutationsanalyse, Frauen

01/2007 | Hämostaseologie, Schattauer

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

Previous family studies revealed a large number of calpain 3 (CAPN3) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with selective atrophy of the proximal limb muscles...

Keywords: linkage, missense mutation, molecular model, mutation analysis, Phenotype, structure-activity relationship

01/2005 | Biological Chemistry, Walter de Gruyter

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You are here: Home :: Keyword index :: mat bis NAD :: muscle - myelomeningocele mutation analysis

Items for "mutation analysis"

Genomic diagnosis of thrombophilia in women: clinical relevance

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3