Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #304 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/304.pdf

Autor:	Jan Peter Rake, Annelies M. ten Berge, Gepke Visser, Edwin Verlind, Klary E. Niezen-Koning, Charles H.C.M. Buys, G. Peter A. Smit, Hans Scheffer
Rok vydání:	2000
Předmět:	Genetics Genetics (clinical)
Zdroj:	Human Mutation. 15:381
ISSN:	1098-1004 1059-7794
DOI:	10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.3.co;2-b
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a105506b282df6039c0751a9b77f2493 https://doi.org/10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.3.co Zobrazit plný text záznamu Plný text