Konu "Mutation" için Tıp Fakültesi listeleme
Toplam kayıt 3, listelenen: 1-3
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A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family
(Galenos Publishing, 2015)Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine ... -
Inherited transmission of the CSF3R T618I mutation: A familial report
(Springer, 2023)To the editor, Chronic neutrophilic leukemia (CNL) is a rare, break cluster region-Abelson 1 (BCR-ABL1) negative myeloproliferative neoplasm, which is characterized by mature neutrophilic proliferation with neutrophilic ... -
Prognostic and predictive role of liquid biopsy in lung cancer patients
(Frontiers Media SA, 2024)Introduction Lung cancer (LC) is a leading cause of cancer-related mortality worldwide. Approximately 80% of LC cases are of the non-small cell lung cancer (NSCLC) type, and approximately two-thirds of these cases are ...