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

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 patient wi...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Martínez-Hernández, Angélica, Larrosa, Julieta, Barajas-Olmos, Francisco, García-Ortíz, Humberto, Mendoza-Caamal, Elvia C., Contreras-Cubas, Cecilia, Mirzaeicheshmeh, Elaheh, Lezana, José Luis, Orozco, Lorena
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6532186/
https://ncbi.nlm.nih.gov/pubmed/31118044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0528-1
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