Now showing items 31-40 of 4296
HFE gene mutations in Brazilian thalassemic patients
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis ...
A novel nonsense mutation 6,E-X in the protein S gene causes type I deficiency
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
(Scandinavian University PressOsloNoruega, 1999)
Kras oncogene analysis of non-melanoma skin tumors in Southeastern Brazil
Skin cancers are the most common human malignant neoplasia and their incidence is growing, chiefly in tropical countries. There is evidence that ultraviolet (UV) radiation present in sunlight is important for genetic damage. ...
N-RAS and K-RAS gene mutations in Brazilian patients with multiple myeloma
(Taylor & Francis LtdAbingdonInglaterra, 2006)
Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Technique
(Mary Ann Liebert IncNew RochelleEUA, 2011)
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2013)
Molecular genetics study of deafness in Brazil: 8-year experience