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Title

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Authors
Gannagé-Yared, Marie-Hélène
Chouery, Eliane
Sobacchi, Cristina
Mehawej, Cybel
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Published in Bone. 2014, vol. 68, p. 142-5
Abstract Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR). To date, very few cases of these mutations were reported.
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PMID: 25180662
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Article (Published version) (503 Kb) - document accessible for UNIGE members only Limited access to UNIGE
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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GANNAGÉ-YARED, Marie-Hélène et al. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. In: Bone, 2014, vol. 68, p. 142-5. https://archive-ouverte.unige.ch/unige:42299

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Deposited on : 2014-12-01

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