Universidad de Salamanca
Estudio genético de pacientes diagnosticados de enfermedad de Rendu-Osler-Weber (HHT)
Abstract
[EN] Although there are previous studies that analyze the Osler Weber Rendu disease in Spanish patients, in our work we intend to analyze from a clinical standpoint and genetic characteristics of patients followed at the Hospital Universitario de Salamanca. To this end our objectives are: 1. Conduct a review of medical records of patients with Osler Weber Rendu diagnosed at the Hospital Universitario de Salamanca during the past 7 years. 2. Studying the genes ENG, ALK1 and SMAD4 in patients with clinical diagnosis of Osler Weber Rendu to determine the incidence of mutations in them. 3. Characterize by bioinformatics methods, the impact of the mutations found in patients enrolled in the study. 4. To determine the possible existence of genotype-phenotype correlation.
Author and committee
dc:creator, dc:contributor.*- Author
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- Cabezón Crespo, Antonio
Subjects
dc:subject × 7Identifiers
dc:identifier.*- Identifier
- hdl:10366/110648
- OAI identifier oai:identifier
- oai:gredos.usal.es:10366/110648