Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

BACKGROUND: Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast’s bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the re...

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Detalles Bibliográficos
Autores principales: Bonapace, Giuseppe, Moricca, Maria Teresa, Talarico, Valentina, Graziano, Francesca, Pensabene, Licia, Miniero, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253627/
https://www.ncbi.nlm.nih.gov/pubmed/25410126
http://dx.doi.org/10.1186/s13052-014-0090-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253627/
https://www.ncbi.nlm.nih.gov/pubmed/25410126
http://dx.doi.org/10.1186/s13052-014-0090-6

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