A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis

Autor:	이선경(Seon kyeong Rhie), 기창석(Chang Seok Ki), 박진석(Jin Seok Park), 이정민(Jeong Min Lee), 김영은(Young Eun Kim), 채규영(Kyu Young Chae)
Rok vydání:	2014
Předmět:	medicine.medical_specialty Pathology business.industry medicine.disease Pyloric stenosis ATP7A Protein ATP7A Gene Endocrinology Internal medicine medicine Menkes disease Menkes Kinky Hair Syndrome business Novel mutation Hypertrophic Pyloric Stenosis Intracellular
Zdroj:	Journal of the korean child neurology society. 22:186-190
ISSN:	1226-6884
DOI:	10.26815/jkcns.2014.22.3.186
Popis:	Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::fe0f436c714e0f6b1d76407a944d71fd https://doi.org/10.26815/jkcns.2014.22.3.186 Zobrazit plný text záznamu