LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide tools to analyse the numerous mutations that have been identified in the LDLR gene. The second version...

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Bibliografiska uppgifter
Huvudupphovsmän: Varret, M, Rabés, J P, Thiart, R, Kotze, M J, Baron, H, Cenarro, A, Descamps, O, Ebhardt, M, Hondelijn, J C, Kostner, G M, Miyake, Y, Pocovi, M, Schmidt, H, Schuster, H, Stuhrmann, M, Yamamura, T, Junien, C, Béroud, C, Boileau, C
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1998
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC147253/
https://ncbi.nlm.nih.gov/pubmed/9399845
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