Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report

• Hoofdauteurs: Angélica Martínez-Hernández (Auteur), Julieta Larrosa (Auteur), Francisco Barajas-Olmos (Auteur), Humberto García-Ortíz (Auteur), Elvia C. Mendoza-Caamal (Auteur), Cecilia Contreras-Cubas (Auteur), Elaheh Mirzaeicheshmeh (Auteur), José Luis Lezana (Auteur), Lorena Orozco (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2019-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF). Case presentation Here, we report the first case of a novel/de novo variant in a Mexican pat...