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Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
(Elsevier Science BvAmsterdamHolanda, 2004)
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
(Kluwer Academic Publ, 2002-11-01)
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two ...
PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients
(HOSPITAL CLINICAS, UNIV SAO PAULOSAO PAULO, 2012)
OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol ...
A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation
(Endocrine Society, 2005-06)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and ...
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
(Scandinavian University PressOsloNoruega, 1999)
Assessing the influence of multiple test case selection on mutation experiments
(IEEE Computer SocietyCleveland, Ohio, 2014-03-31)
Mutation testing is widely used in experiments.
Some papers experiment with mutation directly, while others
use it to introduce faults to measure the effectiveness of tests
created by other methods. There is some random ...
E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common mediterranean ancestor
(Freund Publishing House Ltd, 2008)
Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder. We studied the clinical and biochemical characteristics and the ...
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
(NATURE PUBLISHING GROUP, 2010)
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on ...
Nphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described
(Wiley-BlackwellHoboken, 2016)