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Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

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 in several genes have been related to the disease. There is a clear...

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Hlavní autoři: Sánchez-Mejías, Avencia, Núñez-Torres, Rocio, Fernández, Raquel M, Antiñolo, Guillermo, Borrego, Salud
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2877671/
https://ncbi.nlm.nih.gov/pubmed/20459765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-71
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