Evaluation of the Genetic Background of Patients with Niemann-Pick Disease

CONCLUSIONS: In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.PMID:38618260 | PMC:PMC11015928 | DOI:10.61186/rbmb.12.3.386
Source: Mol Biol Cell - Category: Molecular Biology Authors: Source Type: research