Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

Autor:	R. J McKinlay Gardner, Elly Lynch, Joy Yaplito-Lee, Sharyn E. Stock-Myer, Damien L. Bruno, Steven Nasioulas, Phung La, Howard R. Slater, David Coman
Rok vydání:	2010
Předmět:	Genetics business.industry Endocrinology Diabetes and Metabolism medicine.disease Biochemistry Endocrinology Chronic granulomatous disease Retinitis pigmentosa Medicine business Molecular Biology Mendelian disorders Ornithine transcarbamylase deficiency X chromosome
Zdroj:	Molecular Genetics and Metabolism. 99:329
ISSN:	1096-7192
DOI:	10.1016/j.ymgme.2009.11.006
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::602332df9794523887acbbb0aa1abaca https://doi.org/10.1016/j.ymgme.2009.11.006 Zobrazit plný text záznamu Full Text from ScienceDirect