Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Journal article

Identification of unknown mutations has remained laborious, expensive, and only viable for studies of selected cases. Population-based "reference ranges" of rarer sequence diversity are not available. However, the research and diagnostic interpretation of sequence variants depends on such information. Additionally, this is the only way to determine prevalence of severe, moderate, and silent mutations and is also relevant to the development of screening programs. We previously described a syst...

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Authors: Alharbi, K; Spanakis, E; Tan, K; Smith, M; Aldahmesh, M

• Publication status: Published
• Journal: Human mutation
• Volume: 28
• Issue: 3
• Pages: 294-302
• Publication date: 2007-03-01
• DOI: 10.1002/humu.20404
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: Genetic Testing; Aged; Nucleic Acid Denaturation; Temperature; Female; Middle Aged; Mutation; Humans; Polymorphism, Single-Stranded Conformational; DNA Mutational Analysis; Receptor, Melanocortin, Type 4; Great Britain; Male