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Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH)

✍ Scribed by P. Lombardi; E. Sijbrands; J.C. Defesche; J.J.P. Kastelein; R.R. Frants; L. Havekes


Book ID
118325131
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
150 KB
Volume
109
Category
Article
ISSN
0021-9150

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Spectrum of LDL receptor gene mutations
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Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19