NRG1 variant effects in patients with Hirschsprung disease

BACKGROUND: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This study aims...

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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Gunadi, Budi, Nova Yuli Prasetyo, Sethi, Raman, Fauzi, Aditya Rifqi, Kalim, Alvin Santoso, Indrawan, Taufik, Iskandar, Kristy, Makhmudi, Akhmad, Adrianto, Indra, San, Lai Poh
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6123906/
https://ncbi.nlm.nih.gov/pubmed/30180823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1265-x
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