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A novel mutation in exon 2 of the low‐density lipoprotein‐receptor gene in a patient with homozygous familial hypercholesterolemia
Author(s) -
Takahashi M,
Ikeda U,
Takahashi S,
Hattori H,
Iwasaki T,
Ishihara M,
Egashira T,
Honma S,
Asano Y,
Shimada K
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.590414.x
Subject(s) - exon , genetics , familial hypercholesterolemia , mutation , medicine , gene , philosophy , biology , cholesterol