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of 3
pro vyhledávání: '"G V Z, Dedoussis"'
Autor:
G V Z, Dedoussis, J, Genschel, T-E, Sialvera, B, Bochow, N, Manolaki, Y, Manios, E, Tsafantakis, H, Schmidt
Publikováno v:
Annals of human genetics. 69(Pt 3)
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. The worldwide incidence is in the order of 30 cases per million, with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa641b4107d6c8fa914c965f2052eaf6
https://pubmed.ncbi.nlm.nih.gov/15845031
https://pubmed.ncbi.nlm.nih.gov/15845031
Autor:
G V Z, Dedoussis, C, Pitsavos, D, Kelberman, J, Skoumas, M E, Prassa, D M, Choumerianou, C, Stefanadis, S E, Humphries, P, Toutouzas
Publikováno v:
Clinical genetics. 64(5)
In a patient with familial hypercholesterolemia (FH), we have identified a new mutation (-45delT) in repeat 3 of the low-density lipoprotein receptor (LDLR) gene promoter. Analysis of a neutral polymorphism in the LDLR mRNA from the patient's white b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3db60cd4c95c2fcaaf7f119d40633372
https://pubmed.ncbi.nlm.nih.gov/14616764
https://pubmed.ncbi.nlm.nih.gov/14616764
Publikováno v:
Annals of hematology. 81(9)
The aim of the study was to investigate the association of leptin with hematological parameters in beta-thalassemia patients in Greece. We measured plasma levels of soluble transferrin receptor (sTfR) and leptin by enzyme-linked immunosorbent assay (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f509e968fb598cf148204fc80a3c85
https://pubmed.ncbi.nlm.nih.gov/12373360
https://pubmed.ncbi.nlm.nih.gov/12373360