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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance
Snozek, Christine LH, Lagerstedt, Susan A, Khoo, Teck K, Rubenfire, Melvyn, Isley, William L, Train, Laura J, Baudhuin, Linnea MVolume:
17
Year:
2008
Language:
english
Pages:
6
DOI:
10.1038/ejhg.2008.138
File:
PDF, 99 KB
english, 2008