TY  - JOUR
AU  - Nuñez-Torres, Rocio
AU  - Fernandez, Raquel M
AU  - Acosta, Manuel Jesus
AU  - Enguix-Riego, Maria del Valle
AU  - Marba, Martina
AU  - de Agustin, Juan Carlos
AU  - Castaño, Luis
AU  - Antiñolo, Guillermo
AU  - Borrego, Salud
PY  - 2011
DO  - 10.1186/1471-2350-12-138
UR  - http://hdl.handle.net/10668/292
T2  - BMC Medical Genetics
AB  - Background. RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed...
LA  - en
PB  - BioMed Central
KW  - Enfermedad de Hirschsprung
KW  - Mutación
KW  - Proteínas Proto-Oncogénicas c-ret
KW  - Polimorfismo de Nucleótido Simple
KW  - Análisis Mutacional de ADN
KW  - Estudios de Casos y Controles
KW  - España
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Digestive System Abnormalities::Hirschsprung Disease
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins c-ret
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Case-Control Studies
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
TI  - Comprehensive analysis of RET common and rare variant patientsin a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
TY  - research article
ER  -