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Article

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Journal of assisted reproduction and genetics - 1 Jul 2021

Aguinaga Mónica, Rezaei Maryam, Monroy Irma, Mechtouf Nawel, Pérez Javier, Moreno Elsa, Valdespino Yolotzin, Galaz Carolina, Razo Guadalupe, Medina Daniela, Piña Raúl, Slim Rima

Abstract excerpt

PURPOSE: To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs). METHODS: Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients. RESULTS: L750V was present in homozygous or heterozygous state in 37 (86%)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33751332
DOI: 10.1007/s10815-021-02132-1
PMCID: PMC8324737

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