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A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique |
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| Authors: | Rocío Nú?ez-Torres Raquel M Fernández Manuel López-Alonso Guillermo Anti?olo Salud Borrego |
| Affiliation: | 1. Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocío, (Manuel Siurot s/n), Seville, (41013), Spain 2. CIBER de Enfermedades Raras (CIBERER), (C/álvaro de Bazán 10), Valencia, (46010), Spain 3. Unidad de Gestión Clínica de Cirugía Infantil, Hospital Universitario Virgen del Rocío, (Manuel Siurot s/n), Seville, (41013), Spain |
| Abstract: | 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 proto-oncogene, have been related to the disease. There is a clear predominance of missense/nonsense mutations in these genes whereas copy number variations (CNVs) have been seldom described, probably due to the limitations of conventional techniques usually employed for mutational analysis. |
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