Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (SIMP)

Gaucher disease is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC). Three clinical types of Gaucher disease have been defined according to the presence (type 2 and 3) or absence (type 1) of central nervous system disease and severity of clinical manifestations....

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Главные авторы: Liu, Yujing, Suzuki, Kinuko, Reed, Jennifer D., Grinberg, Alexander, Westphal, Heiner, Hoffmann, Alexander, Döring, Thomas, Sandhoff, Konrad, Proia, Richard L.
Формат: Artigo
Язык:Inglês
Опубликовано: The National Academy of Sciences 1998
Предметы:
Biological Sciences
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC19391/
https://ncbi.nlm.nih.gov/pubmed/9482915
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