Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. The symptoms expressed by C282Y homozygotes are extremely variable. Only a few suffer from an overt disease. Several studies have suggested that, in addition to...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Milet, Jacqueline , Déhais, Valérie , Bourgain, Catherine , Jouanolle, Anne Marie , Mosser, Annick , Perrin, Michèle , Morcet, Jeff , Brissot, Pierre , David, Véronique , Deugnier, Yves , Mosser, Jean 
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Human Genetics 2007
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2227929/
https://ncbi.nlm.nih.gov/pubmed/17847004
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker