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Mutations in the LDL receptor gene causing mRNA deficienty in heterozygous familial hypercholesterolemia

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


Book ID
118326167
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
104 KB
Volume
115
Category
Article
ISSN
0021-9150

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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