Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer (Easton et al., 1993; Ford et al., 1994). We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian canc
Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a
β Scribed by Janice Chou; Adriana Zingone; Chi-Jiunn Pan
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 259 KB
- Volume
- 161
- Category
- Article
- ISSN
- 0340-6997
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Glycogen storage disease type II (GSDII; Pompe's disease) is an autosomal recessive disease caused by lysosomal -glucosidase deficiency. Skeletal muscle weakness is the most conspicuous clinical symptom of patients suffering from GSDII and skeletal muscle also is prominently involved in the knockout
## Abstract ## Background Aspartylglucosaminuria (AGU) is a lysosomal storage disease with severe neurodegenerative clinical features resulting from the deficiency of lysosomal aspartylglucosaminidase (AGA). The AGU knockout mouse is a good model to test different therapy strategies, as it mimics