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MUTATION IN HONEYBEES .2. AVERAGE RATE OF MUTATION BASED ON 7 GENES FOR EYE COLOR
(Int Bee Research Assoc, 1983-01-01)
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
(Sociedade Brasileira de Genética, 2004-01-01)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD ...
Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review
(Austing Publishing Group, 2016-11)
Purpose: DUOX2 deficiency is a transient or permanent disorder that results in thyroid dyshormonogenesis. The purpose of this study was to identify and characterize new mutations in the DUOX2 gene in an attempt to increase ...
MODY 2: Mutation identification and molecular ancestry in a Brazilian family
(2013-01-10)
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of ...
Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2009)
HFE gene mutations in Brazilian thalassemic patients
(2006-12-01)
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
(KargerBaselSuíça, 1999)
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
(1999-09-01)
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. ...