TY  - JOUR
AU  - Luzón-Toro, Berta
AU  - Torroglosa, Ana
AU  - Núñez-Torres, Rocío
AU  - Enguix-Riego, María Valle
AU  - Fernández, Raquel María
AU  - de Agustín, Juan Carlos
AU  - Antiñolo, Guillermo
AU  - Borrego, Salud
PY  - 2012
DO  - 10.1371/journal.pone.0036524
UR  - http://hdl.handle.net/10668/841
T2  - PloS One
AB  - Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and...
LA  - en
PB  - Public Library of Science
KW  - Enfermedad de Hirschsprung
KW  - Neurregulina-1
KW  - Sistema Nervioso Entérico
KW  - Variación Genética
KW  - Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line::Cell Line, Transformed::COS Cells
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Cercopithecidae::Cercopithecinae::Cercopithecus::Cercopithecus aethiops
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::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
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::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Nerve Growth Factors::Neuregulins::Neuregulin-1
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals
KW  - Medical Subject Headings::Check Tags::Male
TI  - Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.
TY  - research article
ER  -