Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation
✍ Scribed by Tina Buchholz; Guy Molitor; Kiven E. Lukong; Manfred Praun; Orsolya Genzel-Boroviczény; Matthias Freund; Alexey V. Pshezhetsky; Andreas Schulze
- Book ID
- 105745773
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 123 KB
- Volume
- 160
- Category
- Article
- ISSN
- 0340-6997
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Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations
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