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The mutation P392L of the sequestosome 1 gene in Paget's disease of bone is frequent in the French population

✍ Scribed by L Michou, JL Laplanche, P Orcel, P Hilliquin, N Philip, J Roudier…

Book ID
120707989
Publisher
BioMed Central
Year
2003
Tongue
English
Weight
595 KB
Volume
5
Category
Article
ISSN
1478-6354

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Familial Paget's disease in The Netherla
Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations
✍ E. W. M. Eekhoff; M. Karperien; D. Houtsma; A. H. Zwinderman; C. Dragoiescu; A. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB 👁 2 views

## Abstract ## Objective To estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene (__SQSTM1__) in identified families, and to assess potential genotype–phenotype associations. ## Methods We performed a ca