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Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples from 20 patients diagnosed with VACTERL or with a VAC...

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Detalles Bibliográficos
Autores principales: Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887047/
https://www.ncbi.nlm.nih.gov/pubmed/24416387
http://dx.doi.org/10.1371/journal.pone.0085313