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Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia
Author(s) -
Jensen H.K.,
Jensen L.G.,
Hansen P.S.,
Færgeman O.,
Gregersen N.
Publication year - 1996
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/(sici)1098-1004(1996)7:3<269::aid-humu13>3.0.co;2-0
Subject(s) - university hospital , intron , medicine , family medicine , gene , biology , genetics