Study: JGAS00000000007

Identifier

AccessionJGAS00000000007

Description

TitleResearch for genetic causes and mechanisms of Hirschsprung's or Hirschsprung's related diseases
AbstractHirschsprung's disease (HD) is an abdomen disorder which is caused by absence of enteric neurons. HD is a complex genetic disorder and several causing gene mutations have been identified including the receptor tyrosine kinase gene. However, the whole mechanism of HD remains unknown and additional genetic causalities are implicated. To further investigate the genetic causalities of HD, we conducted whole-exome sequencing of patients with HD and unaffected patient's families.
Study Type 1
Study TypeExome Sequencing
Study Type 2
Study TypeCase-Control
Study Type 3
Study TypeFamily

Publication

PubMed ID28799054
Publication Statuspublished
DB TypePUBMED
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000007 Exome data set of Hirschsprung disease Random exome sequencing 11 JGAP00000000001