Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
AIMS: Current screening methods, such as single strand conformational polymorphism (SSCP) and denaturing high performance liquid chromatography (dHPLC) that are used for detecting mutations in familial hypercholesterolaemia (FH) subjects are time consuming, costly and only 80-90% sensitive. Here we...
Үндсэн зохиолчид: | Whittall, R, Scartezini, M, Li, K, Hubbart, C, Reiner, Z, Abraha, A, Neil, H, Dedoussis, G, Humphries, SE |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
2010
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Ижил төстэй зүйлс
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DEVELOPMENT OF AN AFFORDABLE, SENSITIVE AND RAPID SCREENING METHOD FOR MUTATION DETECTION IN UK FH SUBJECTS
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Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia.
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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
-н: Humphries, SE, зэрэг
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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
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