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Psychological complications of patients with Gaucher disease

✍ Scribed by W. Packman; T. Wilson Crosbie; A. Riesner; C. Fairley; S. Packman

Publisher
Springer
Year
2006
Tongue
English
Weight
236 KB
Volume
29
Category
Article
ISSN
0141-8955

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55-Base pair deletion in certain patient
55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles
✍ Tayebi, N.; Stern, H.; Dymarskaia, I.; Herman, J.; Sidransky, E. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 397 KB πŸ‘ 2 views

Mutations in the glucocerebrosidase gene which result in Gaucher disease can originate from the highly homologous glucocerebrosidase pseudogene. A 55-bp deletion in exon 9, which corresponds to a 55-bp segment absent from the pseudogene, has been identified in patients with Gaucher disease. We have