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R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia
Author(s) -
Kuhrová Viera,
Kozák Libor,
Soška Vladimír,
Fajkusová Lenka,
Stejskal Jaroslav,
Blažková Michaela,
Freiberger Tomáš,
Jurtíková Alžběta
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.13801101106
Subject(s) - czech , molecular genetics , medical genetics , missense mutation , genetics , biology , mutation , gene , philosophy , linguistics