Výsledky vyhledávání - "Mutation(s), nonsense"

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

Publikováno v: The American Journal of Human Genetics. 63:1015-1024

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd1d72a19dab605fb3fdf910508cc3b
https://doi.org/10.1086/302048

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