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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 ...
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
(ELSEVIER SCIENCE INC, 2010)
Objective: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. Design: Case report. Setting: University medical ...
Determination of potentially novel compensatory mutations in rpoC associated with rifampin resistance and rpoB mutations in Mycobacterium tuberculosis Clinical isolates from Peru
(Medknow Publications, 2020)
Background: Rifampicin (RIF) resistance in Mycobacterium tuberculosis is frequently caused by mutations in the rpoB gene. These mutations are associated with a fitness cost, which can be overcome by compensatory mutations ...
Nphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described
(Wiley-BlackwellHoboken, 2016)
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia
(Colombia Médica, 2017-06-02)
Introduction: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.Objective: To identify the presence of ...
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
(Public Library of Science, 2017-12)
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ ...
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis
(Ferrata Storti Foundation, 1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this ...
Molecular analysis of the retinoblastoma (RB1) gene in acute myeloid leukemia patients
(Pergamon-elsevier Science LtdOxfordInglaterra, 1998)
Prothrombin C20209T mutation in deep vein thrombosis: A case report
(E-Century Publishing Corporation, 2015)