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

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

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...

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Bibliographic Details
Main Authors: Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, José Luis Lezana, Lorena Orozco
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genomics
Subjects:
Cystic fibrosis
Next generation sequencing
P.Trp1089*
P.Glu588*
Novel/de novo variant
Online Access:http://link.springer.com/article/10.1186/s12920-019-0528-1

Internet

http://link.springer.com/article/10.1186/s12920-019-0528-1

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