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The construction and application of diploid sake yeast with a homozygous mutation in the FAS2 gene

✍ Scribed by Atsushi Kotaka; Hiroshi Sahara; Yoji Hata


Book ID
113683413
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
308 KB
Volume
110
Category
Article
ISSN
1389-1723

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The complete spectrum of clinical phenotypes resulting from glucocerebrosidase deficiency continues to evolve. While most patients with Gaucher disease have residual glucocerebrosidase activity, we describe a fetus with severe prenatal lethal type 2 (acute neuronopathic) Gaucher disease lacking gluc