Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a

Autor:	U. Knzel, C. Winter, B. Rapp, Thorsten Marquardt, Anja Homberger, Michael Linnebank, Hans-Georg Koch
Rok vydání:	1999
Předmět:	Mutation G6PC biology medicine.disease_cause medicine.disease Molecular biology Frameshift mutation Exon Genetics biology.protein medicine Glycogen storage disease Gene Genetics (clinical) Glucose 6-phosphatase Early onset
Zdroj:	Human Mutation. 13:414-414
ISSN:	1098-1004 1059-7794
DOI:	10.1002/(sici)1098-1004(1999)13:5<414::aid-humu18>3.0.co;2-2
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::2f5decde2ce26c8d9f5e0a372cb91020 https://doi.org/10.1002/(sici)1098-1004(1999)13:5<414::aid-humu18>3.0.co Zobrazit plný text záznamu Plný text