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MUTATIONS IN THE LDLR AND APOB IN SUBJECTS WITH THE CLINICAL DIAGNOSIS OF FAMILIAL COMBINED HYPERLIPERLIPIDEMIA

โœ Scribed by Civeira, F.; Jarauta, E.; Cenarro, A.; Garcia-Otin, A.L.; Ros, E.; Tejedor, D.; Pocovi, M.


Book ID
118636535
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
70 KB
Volume
9
Category
Article
ISSN
1567-5688

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โœ Isabel De Castro-Orรณs; Sandra Pampรญn; Alfonso Bolado-Carrancio; Aguirre De Cubas ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 252 KB ๐Ÿ‘ 1 views

Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5 0 UTR. Here, we analyse the functionality of six newly ident