التفاصيل البيبلوغرافية
العنوان:
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
المؤلفون:
Ana Töpf , Katherine Johnson , Adam Bates , Lauren Phillips , Katherine R. Chao , Eleina M. England , Kristen M. Laricchia , Thomas Mullen , Elise Valkanas , Liwen Xu , Marta Bertoli , Alison Blain , Ana B. Casasús , Jennifer Duff , Magdalena Mroczek , Sabine Specht , Monkol Lek , Monica Ensini , Daniel G. MacArthur , Ela Akay , Jorge Alonso-Pérez , Jonathan Baets , Nina Barisic , Alexandra Bastian , Sabine Borell , Teodora Chamova , Kristl Claeys , Jaume Colomer , Sandra Coppens , Nicolas Deconinck , Willem de Ridder , Jordi Díaz-Manera , Cristina Domínguez-González , Alexis Duncan , Hacer Durmus , Nagia A. Fahmy , Maria Elena Farrugia , Roberto Fernández-Torrón , Lidia Gonzalez-Quereda , Jana Haberlova , Maja von der Hagen , Andreas Hahn , Antonia Jakovčević , Ivonne Jerico Pascual , Solange Kapetanovic , Viktorija Kenina , Janbernd Kirschner , Andrea Klein , Heike Kölbel , Anna Kostera-Pruszczyk , Richa Kulshrestha , Jaana Lähdetie , Mahsa Layegh , Cheryl Longman , Adolfo López de Munain , Wolfgang Loscher , Anna Lusakowska , Paul Maddison , Armelle Magot , Anirban Majumdar , Pilar Martí , Amaia Martínez Arroyo , Radim Mazanec , Sandra Mercier , Tiziana Mongini , Nuria Muelas , Andrés Nascimento , Shahriar Nafissi , Shirin Omidi , Carlos Ortez , Stéphanie Paquay , Yann Pereon , Stojan Perić , Valentina Ponzalino , Vidosava Rakočević Stojanović , Gauthier Remiche , Aida Rodríguez Sainz , Sabine Rudnik , Iciar Sanchez Albisua , Manuela Santos , Ulrike Schara , Andriy Shatillo , Jadranka Sertić , Ulrich Stephani , Sonja Strang-Karlsson , Yves Sznajer , Ani Tanev , Ivailo Tournev , Peter Van den Bergh , Vinciane Van Parijs , Juan Vílchez , Katharina Vill , John Vissing , Carina Wallgren-Pettersson , Julia Wanschitz , Tracey Willis , Nanna Witting , Miren Zulaica , Volker Straub
المساهمون:
MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl
المصدر:
Genetics in medicine
سنة النشر:
2020
مصطلحات موضوعية:
0301 basic medicine , targeted exome analysis , Neuromuscular disease , Medizin , Anoctamins , 030105 genetics & heredity , Bioinformatics , 3124 Neurology and psychiatry , DNA sequencing , Article , 03 medical and health sciences , genetic diagnosis , limb-girdle weakness , neuromuscular disease , next-generation sequencing , 3123 Gynaecology and paediatrics , Exome Sequencing , Medicine , Humans , Exome , Gene , Genetics (clinical) , Exome sequencing , SGCA , RYR1 , Genetic heterogeneity , business.industry , Sciences bio-médicales et agricoles , medicine.disease , Phenotype , 3. Good health , 030104 developmental biology , Muscular Dystrophies, Limb-Girdle , Glucosyltransferases , Human medicine , business
الوصف:
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology.
وصف الملف:
1 full-text file(s): application/pdf; Print-Electronic
اللغة:
English
تدمد:
1098-3600
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test https://repository.uantwerpen.be/docstore/d:irua:4405Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....5eb0b77bdff412d8ddab3c132a95c157
قاعدة البيانات:
OpenAIRE
