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Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia
(Wiley, 2014-10)
We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant b-thalassemia-like ...
beta-Spectrin Campinas: A novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis
(Blackwell Science LtdOxfordInglaterra, 1997)
A new beta(0)-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family
(Wiley-blackwellHobokenEUA, 2013)
ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA
(Associação Brasileira de Divulgação Científica, 2002)
beta-Spectrin Sao Paulo(II), a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA
(Assoc Bras Divulg CientificaSao PauloBrasil, 2002)
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
(Springer, 2015)
Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...
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 ...