التفاصيل البيبلوغرافية
العنوان:
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
المؤلفون:
Brigitte Bader-Meunier , Thibault Comont , Felipe Suarez , Alain Fischer , Vincent Barlogis , David Boutboul , Claire Fieschi , Guillaume Vogt , Marlène Pasquet , Frédéric Rieux-Laucat , Jérémie Rosain , Marine Gil , Lionel Galicier , Etienne Merlin , Cécile Fourrage , Christine Bole , Nicholas Renaud , Wadih Abou Chahla , Capucine Picard , Sylvain Hanein , Stéphane Blanche , Patrick Nitschké , Despina Moshous , Benedicte Neven , Isabelle André , Virginie Grandin , Alexandre Alcaïs , Sylvain Latour , Jean-Pierre de Villartay , Chantal Lagresle-Peyrou , Jean-Sebastien Diana , Eric Oksenhendler , Marion Malphettes , Samuel Chevalier , Elisabeth Hulier-Ammar , Olivier Hermine , Mathieu Fusaro , Jacinta Bustamante , Nathalie Lambert , Vivien Béziat , Geneviève de Saint Basile , Nizar Mahlaoui , Martin Castelle , Sven Kracker , Alain Lefevre-Utile
المساهمون:
Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
المصدر:
Journal of Allergy and Clinical Immunology
بيانات النشر:
HAL CCSD, 2020.
سنة النشر:
2020
مصطلحات موضوعية:
0301 basic medicine , Adult , Male , Adolescent , Primary Immunodeficiency Diseases , health care facilities, manpower, and services , [SDV]Life Sciences [q-bio] , Immunology , education , MEDLINE , Immunoglobulins , Bioinformatics , DNA sequencing , 03 medical and health sciences , Young Adult , 0302 clinical medicine , Immunology and Allergy , Medicine , Guanine Nucleotide Exchange Factors , Humans , Child , health care economics and organizations , Aged , Primary (chemistry) , business.industry , Infant, Newborn , High-Throughput Nucleotide Sequencing , Infant , Middle Aged , medicine.disease , 3. Good health , I-kappa B Kinase , 030104 developmental biology , Child, Preschool , Cohort , Mutation , Etiology , Primary immunodeficiency , Female , business , 030215 immunology
الوصف:
This study aims to validate a targeted next-generation sequencing panel of 300 genes to diagnose a cohort of 129 patients with primary immunodeficiency with no prior molecular etiology.
اللغة:
English
تدمد:
0091-6749
DOI:
10.1016/j.jaci.2020.05.046⟩
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2d32f7cde173fcd7ea430b5469b219 https://hal.archives-ouvertes.fr/hal-03066033
Rights:
OPEN
رقم الانضمام:
edsair.doi.dedup.....ae2d32f7cde173fcd7ea430b5469b219
قاعدة البيانات:
OpenAIRE