Missense and Nonsense Mutations in the Lysosomal α-Mannosidase Gene (MANB) in Severe and Mild Forms of α-Mannosidosis

Autor:	Yasuo Gotoda, Hisaomi Kawai, Yoshihiko Nishida, Toshio Matsumoto, Nobuaki Wakamatsu
Rok vydání:	1998
Předmět:	Male Mannosidase Alpha-mannosidosis Nonsense mutation Mutation Missense Biology alpha-Mannosidase medicine.disease_cause Polymerase Chain Reaction Genetic Heterogeneity Mannosidases Genetics medicine Humans Missense mutation Genetics(clinical) Mutation(s) nonsense Child Gene Polymorphism Single-Stranded Conformational Genetics (clinical) DNA Primers Mutation MANB Genetic heterogeneity Infant α-Mannosidase Sequence Analysis DNA α-Mannosidosis Middle Aged medicine.disease Mutation(s) missense Molecular biology Recombinant Proteins Codon Nonsense Child Preschool alpha-Mannosidosis Female Lysosomes Research Article
Zdroj:	The American Journal of Human Genetics. 63:1015-1024
ISSN:	0002-9297
DOI:	10.1086/302048
Popis:	alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a severe, infantile form (type I), which is fatal at
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd1d72a19dab605fb3fdf910508cc3b https://doi.org/10.1086/302048 Zobrazit plný text záznamu