دورية أكاديمية
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
| العنوان: | Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease. |
|---|---|
| المؤلفون: | Martínez-López, Javier, Márquez, Ana, Pegoraro, Francesco, Ortiz-Fernández, Lourdes, Acosta-Herrera, Marialbert, Kerick, Martin, Gelain, Elena, Diamond, Eli L, Durham, Benjamin H, Abdel-Wahab, Omar, Go, Ronald S, Koster, Matthew J, Dagna, Lorenzo, Campochiaro, Corrado, Collin, Matthew, Milne, Paul, Estrada-Veras, Juvianee I, O'Brien, Kevin, Papo, Matthias, Cohen-Aubar, Fleur, Amoura, Zahir, Haroche, Julien, Martín, Javier, Vaglio, Augusto |
| المصدر: | Arthritis Rheumatol ; ISSN:2326-5205 ; Volume:76 ; Issue:1 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2024 |
| المجموعة: | PubMed Central (PMC) |
| الوصف: | Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome-wide association study. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.1002/art.42673Test; https://pubmed.ncbi.nlm.nih.gov/37561109Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10841187Test/ |
| DOI: | 10.1002/art.42673 |
| الإتاحة: | https://doi.org/10.1002/art.42673Test https://pubmed.ncbi.nlm.nih.gov/37561109Test https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10841187Test/ |
| حقوق: | © 2023 The Authors. Arthritis & Rheumatology published by Wiley Periodicals LLC on behalf of American College of Rheumatology. |
| رقم الانضمام: | edsbas.1516858C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/art.42673 |
|---|