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Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families

✍ Scribed by G. Velho; H. Blanché; M. Vaxillaire; C. Bellanné-Chantelot; V. C. Pardini; J. Timsit; P. Passa; I. Deschamps; J.-J. Robert; I. T. Weber; D. Marotta; S. J. Pilkis; G. M. Lipkind; G. I. Bell; P. Froguel


Book ID
105821684
Publisher
Springer
Year
1997
Tongue
English
Weight
312 KB
Volume
40
Category
Article
ISSN
0012-186X

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## 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