A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

Autor:	J. M. Connor, E. J. White, M. L. Whiteford, D. U. Sinclair, C. J. Fleming, B. Winchester
Rok vydání:	1998
Předmět:	Fucosidosis alpha-L-Fucosidase Genetics Mutation media_common.quotation_subject Longevity Mutation Missense α fucosidase Exons Middle Aged Biology medicine.disease medicine.disease_cause Human genetics Exon medicine Humans Missense mutation Female Gene Genetics (clinical) media_common
Zdroj:	Journal of Inherited Metabolic Disease. 21:688-689
ISSN:	0141-8955
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f56b08a0faae315a9d9228c34b21df https://doi.org/10.1023/a:1005405222252 Zobrazit plný text záznamu Full text from SpringerLink Plný text