A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

BACKGROUND: Hirschsprung 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 proto-oncogene, have been related to the diseas...

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Detalles Bibliográficos
Autores principales: Núñez-Torres, Rocío, Fernández, Raquel M, López-Alonso, Manuel, Antiñolo, Guillermo, Borrego, Salud
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784767/
https://www.ncbi.nlm.nih.gov/pubmed/19925665
http://dx.doi.org/10.1186/1471-2350-10-119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784767/
https://www.ncbi.nlm.nih.gov/pubmed/19925665
http://dx.doi.org/10.1186/1471-2350-10-119

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