Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR
Bibliographic Data
| ID | 15533698 |
|---|---|
| Authors | Ruth Aquino (0000-0001-7692-091X, Universidad Nacional de Tumbes, corresponding author), Ana Prötzel (Hospital Nacional Cayetano Heredia), Juan Rivera-Medina (0000-0003-3562-7914, Instituto Nacional de Salud del Niño), Hugo Hernán Abarca-Barriga (0000-0002-0276-2557, Instituto Nacional de Salud del Niño), Milagros Dueñas (0000-0001-8366-8740, Hospital Nacional Cayetano Heredia), Cecilia Nestarez, Nestór Purizaga (Universidad Nacional de Tumbes), Benoit Diringer (0000-0001-6129-1751) |
| Year | 2017 |
| Volume | 34 |
| Issue | 1 |
| Pages | 62-62 |
| Publication date | 2017-03-23 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Revista Peruana de Medicina Experimental y Salud Pública (JOURNAL) |
| Journal identifiers | ISSN: 1726-4634 • E-ISSN: 1726-4642 |
| Publisher | National Institute of Health of Peru (PUBLISHER • PE) |
| DOI | 10.17843/rpmesp.2017.341.2767 |
| PMID | 28538847 |
| OpenAlex | W2605561461 |
| Language | ES |
| References cited | 1 |
There is significant variability in both the frequency and type of mutations present in our study population and in what has been reported in other Latin American countries. It is necessary to perform studies that use complete sequencing technology for the CFTR gene to identify other mutations present in our population
Allele · Allele frequency · Biology · Cystic fibrosis · Gene · Gynecology · Mutation · Polymerase chain reaction · Population · Cystic Fibrosis Research Advances · Immunodeficiency and Autoimmune Disorders · Medicine · Gastroenterology · Genetics · Internal Medicine · Molecular Biology
| Highly cited | No |
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