TY  - JOUR
AU  - Núñez-Torres, Rocío
AU  - Fernández, Raquel M.
AU  - López-Alonso, Manuel
AU  - Antiñolo, Guillermo
AU  - Borrego, Salud
PY  - 2009
DO  - 10.1186/1471-2350-10-119
UR  - http://hdl.handle.net/10668/1689
T2  - BMC Medical Genetics
AB  - BACKGROUNDHirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, mainly the RET...
LA  - en
PB  - BioMed Central
KW  - Endotelina-3
KW  - Enfermedad de Hirschsprung
KW  - Técnicas de Amplificación de Ácido Nucleico
KW  - Proteínas Proto-Oncogénicas c-ret
KW  - Secuencias Reguladoras del Ácido Nucleico
KW  - España
KW  - Variaciones en el Número de Copia de ADN
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Endothelins::Endothelin-3
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Diseases::Digestive System Diseases::Digestive System Abnormalities::Hirschsprung Disease
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
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::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Receptor Protein-Tyrosine...
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base Sequence::Regulatory Sequences, Nucleic Acid
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variations
TI  - A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
TY  - research article
ER  -