TY  - JOUR
AU  - Sánchez-Mejías, Avencia
AU  - Núñez-Torres, Rocío
AU  - Fernández, Raquel M.
AU  - Antiñolo, Guillermo
AU  - Borrego, Salud
PY  - 2010
DO  - 10.1186/1471-2350-11-71
UR  - http://hdl.handle.net/10668/394
T2  - BMC Medical Genetics
AB  - Background: Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses,due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations inseveral genes...
LA  - en
PB  - BioMed Central
KW  - Enfermedad de Hirschsprung
KW  - Variaciones en el Número de Copia de ADN
KW  - Técnicas de Amplificación de Ácido Nucleico
KW  - Humanos
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::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variations
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques
KW  - Medical Subject Headings::Chemicals and Drugs::Chemical Actions and Uses::Specialty Uses of Chemicals::Laboratory Chemicals::Molecular Probes::Nucleic Acid Probes::DNA Probes
TI  - Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
TY  - research article
ER  -