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Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?

✍ Scribed by A.L. Torres; S. Moorjani; M.C. Vohl; C. Gagne´; B. Lamarche; D. Brun; J.P. Despre´s; P.J. Lupien


Book ID
118325489
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
312 KB
Volume
109
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