tailieuchung - Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

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Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. |

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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

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