Found 12 datasets matching "mutation-detection".
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A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect wherein said mutated...
Search relevance: 77.70 | Views last month: 0 -
Background The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of...
Search relevance: 52.08 | Views last month: 3 -
Background The E-cadherin-catenin complex plays a crucial role in epithelial cell-cell adhesion and in the maintenance of tissue architecture. Perturbation in the expression or function...
Search relevance: 52.02 | Views last month: 1 -
Background Acetylcholinesterase is irreversibly inhibited by organophosphate and carbamate insecticides allowing its use for residue detection with biosensors. Drosophila...
Search relevance: 51.11 | Views last month: 0 -
Background Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with...
Search relevance: 46.61 | Views last month: 2 -
Background Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular...
Search relevance: 46.36 | Views last month: 0 -
Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B...
Search relevance: 44.92 | Views last month: 0 -
The present invention provides a method of detecting non-apoptotic DNA in clinical samples. In particular there is provided a novel screening methodology for the detection of colorectal carcinoma....
Search relevance: 42.33 | Views last month: 0 -
Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in...
Search relevance: 40.67 | Views last month: 0 -
Background The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. ...
Search relevance: 40.23 | Views last month: 1 -
Background Genetic screens in Drosophila have provided a wealth of information about a variety of cellular and developmental processes. It is now possible to screen for mutant phenotypes...
Search relevance: 39.61 | Views last month: 0 -
Background The routine determination of drug resistance in newly HIV-1 infected individuals documents a potential increase in the transmission of drug-resistant variants. Plasma samples...
Search relevance: 32.34 | Views last month: 0
