A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency

Autor:	L. K. Law, Chi Lap Yuen, Sharon Wan-wah Cherk, Jeffrey S.S. Kwok, Y P Yuen, Nelson L.S. Tang
Rok vydání:	2012
Předmět:	Succinic semialdehyde dehydrogenase deficiency Biochemistry business.industry Mutation (genetic algorithm) DNA Mutational Analysis Medicine Metabolism Amino acid metabolism Succinate-semialdehyde dehydrogenase deficiency business medicine.disease Pathology and Forensic Medicine
Zdroj:	Pathology. 44:280-282
ISSN:	0031-3025
DOI:	10.1097/pat.0b013e32835140c2
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ccffe20a9bb2efecb3710b60401d0aae https://doi.org/10.1097/pat.0b013e32835140c2 Zobrazit plný text záznamu Full Text from ScienceDirect