Two novel mutations at exon 8 of the sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB)

被引：63

作者：

Falchetti, A

Di Stefano, M

Marini, F

Del Monte, F

Mavilia, C

Strigoli, D

De Feo, ML

Isaia, G

Masi, L

Amedei, A

Cioppi, F

Ghinoi, V

Bongi, SM

Di Fede, G

Sferrazza, C

Rini, GB

Melchiorre, D

Matucci-Cerinic, M

Brandi, ML

机构：

[1] Azienda Osped Careggi, Dept Internal Med, Florence, Italy

[2] Univ Turin, Dept Internal Med, Turin, Italy

[3] Azienda Osped Careggi, Unit Endocrinol, Florence, Italy

[4] Univ Florence, Dept Crit Care, Florence, Italy

[5] Univ Palermo, Dept Clin Med & Emergent Dis, Palermo, Italy

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2004年 / 19卷 / 06期

关键词：

Paget's disease; metabolic bone disease; genetic research; sequestosome gene; genetic test; mutational analysis;

D O I：

10.1359/JBMR.040203

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder.

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页码：1013 / 1017

页数：5

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