Cargando…
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study
INTRODUCTION: Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power...
Autores principales: | Dell’Edera, Domenico, Benedetto, Michele, Gadaleta, Gemma, Carone, Domenico, Salvatore, Donatello, Angione, Antonella, Gallo, Massimiliano, Milo, Michele, Pisaturo, Maria Laura, Di Pierro, Giuseppe, Mazzone, Eleonora, Epifania, Annunziata Anna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196456/ https://www.ncbi.nlm.nih.gov/pubmed/25304080 http://dx.doi.org/10.1186/1752-1947-8-339 |
Ejemplares similares
-
Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders
por: Dell'Edera, Domenico, et al.
Publicado: (2020) -
Renal amyloidosis in cystic fibrosis: role of colchicine therapy
por: Santoro, Domenico, et al.
Publicado: (2014) -
Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility
por: AlMaghamsi, Talal, et al.
Publicado: (2020) -
Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report
por: Dell’Edera, Domenico, et al.
Publicado: (2012) -
Cystic Fibrosis
por: Gibson, Lewis E.
Publicado: (1969)