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Molecular analysis of the retinoblastoma (RB1) gene in acute myeloid leukemia patients
(Pergamon-elsevier Science LtdOxfordInglaterra, 1998)
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, ...
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. ...
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
(Associação Brasileira de Divulgação Científica, 1998)
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
(Elsevier Masson, 2013-01)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...
Lack of mutation in exon 10 of p53 gene in thyroid tumors
(Sociedad Médica de Santiago, 2004)