Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP...

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Bibliografski detalji
Izdano u:Mol Genet Metab
Glavni autori: Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5257278/
https://ncbi.nlm.nih.gov/pubmed/26432670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.09.010
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