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A multiple genome analysis of Mycobacterium tuberculosis reveals specific novel genes and mutations associated with pyrazinamide resistance
(BioMed Central, 2017)
BACKGROUND: Tuberculosis (TB) is a major global health problem and drug resistance compromises the efforts to control this disease. Pyrazinamide (PZA) is an important drug used in both first and second line treatment ...
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 ...
Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families
(Society of Biology of Chile, 2004)
BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, ...
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
(BioMed Central, 2017)
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understand‑
ing of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered
hi ...
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
(BioMed Central, 2017)
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understand‑
ing of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered
hi ...
Nucleocapsid (N) gene mutations of sars-cov-2 can affect real-time rt-pcr diagnostic and impact false-negative results
(2021-12-01)
The current COVID-19 pandemic demands massive testing by Real-time RT-PCR (Reverse Transcription Polymerase Chain Reaction), which is considered the gold standard diagnostic test for the detection of the SARS-CoV-2 virus. ...