Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing
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- 作者：Agnè ; s Taillandiera ; ataillandier@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author ; Christelle Dominguesa ; christelle.adam1@voila.fr" class="auth_mail" title="E-mail the corresponding author ; Clé ; mence De Cazanovea ; c.de.casanove@outlook.fr" class="auth_mail" title="E-mail the corresponding author ; Valé ; rie Porquet-Bordesb ; porquet-bordes.v@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author ; Sophie Monnotc ; sophie.monnot@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author ; Tina Kiffer-Moreirad ; kiffer-moreira@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author ; Agnè ; s Rothenbuhlere ; f ; anya.rothenbuhler@bct.aphp.fr" class="auth_mail" title="E-mail the corresponding author ; Pascal Guggenbuhlg ; pascal.guggenbuhl@chu-rennes.fr" class="auth_mail" title="E-mail the corresponding author ; Catherine Cormierh ; Catherine.Cormier@cch.ap-hop-paris.fr" class="auth_mail" title="E-mail the corresponding author ; Geneviè ; ve Baujati ; genevieve.baujat@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author ; Franç ; oise Debiaisj ; francoise.debiais@chu-poitiers.fr" class="auth_mail" title="E-mail the corresponding author ; Yline Caprik ; yline.capri@aphp.fr" class="auth_mail" title="E-mail the corresponding author ; Martine Cohen-Solall ; martine.cohen-solal@inserm.fr" class="auth_mail" title="E-mail the corresponding author ; Philippe Parentm ; philippe.parent@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author ; Jean Chiesan ; jean.chiesa@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author ; Anne Dieuxo ; anne.dieux@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author ; Florence Petito ; florence.petit@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author ; Joelle Roumep ; drjroume@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Monica Isnardq ; Valé ; rie Cormier-Dairec ; valerie.cormier-daire@inserm.fr" class="auth_mail" title="E-mail the corresponding author ; Agnè ; s Linglarte ; f ; agnes.linglart@aphp.fr" class="auth_mail" title="E-mail the corresponding author ; José ; Luis Millá ; nd ; millan@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author ; Jean-Pierre Sallesb ; salles.jp@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author ; Christine Mutia ; cmuti@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author ; Brigitte Simon-Bouya ; bsimon-bouy@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author ; Etienne Morneta ; emornet@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author
- 关键词：Hypophosphatasia ; NGS ; Differential diagnosis ; Osteogenesis imperfecta
- 刊名：Molecular Genetics and Metabolism
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：116
- 期：3
- 页码：215-220
- 全文大小：261 K
文摘
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We developed a NGS array for hypophosphatasia (HPP) and differential diagnosis genes.
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Patients referred for HPP diagnosis may have mutations in COL1A1 or COL1A2 genes.
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Testing together ALPL, COL1A1 and COL1A2 genes was proven efficient and useful.