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In terms of the PCR-RFLP technique, genetic screening of Ala575Val inactivating mutation in patients with amenorrhea

2022-12-06

Abstract excerpt

When mutation is inactivated in the follicle-stimulating hormone receptor (FSHR) gene of patients with amenorrhea, the receptor’s functionality is abolished by completely blocking it, altering the ligand–receptor complex or altering the essential hormone signal transduction. This study aims to detect the frequency and pattern of chromosomal abnormalities and the presence of inactivating mutations (Ala575Val) at po...

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Literature Corpus work
fd75d185-2bc2-526a-ac1a-95c24cf5a058
DOI
10.5339/jemtac.2022.aimco.8
Open publication

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