Article
Mapping recombination hotspots in human phosphoglucomutase (PGM1).
Human molecular genetics - 1 Sept 1999
Yip S P, Lovegrove J U, Rana N A, Hopkinson D A, Whitehouse D B
Abstract excerpt
Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8, and are 40 and 18...
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