التفاصيل البيبلوغرافية
| العنوان: |
Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3 |
| المؤلفون: |
AJ Wardlaw, J Barwell, C Hitchman, N Shrine, N Bennett, AB Adewoye, H Ozturk, T Ntereke, P Wurm, MD Tobin, B Gooptu, EJ Hollox, LV Wain |
| سنة النشر: |
2021 |
| المجموعة: |
University of Leicester: Figshare |
| مصطلحات موضوعية: |
Uncategorized, CMTM3, Hypereosinophilic syndrome, blood eosinophilia, eosinophilic gastrointestinal, genetics |
| الوصف: |
Key Messages The letter describes a rare familial form of peripheral blood eosinophilia with GI symptoms. A variant causing a Phe75Leu mutation in CMTM3 is associated with the family's symptoms. The mutation is predicted to cause destabilisation of the interaction of the protein with membrane lipids. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| العلاقة: |
2381/14743107.v1; https://figshare.com/articles/journal_contribution/Familial_hypereosinophilia_associated_with_eosinophilic_gastrointestinal_symptoms_in_individuals_with_a_missense_mutation_in_CKLF-like_MARVEL_transmembrane_domain_containing_3/14743107Test |
| الإتاحة: |
https://figshare.com/articles/journal_contribution/Familial_hypereosinophilia_associated_with_eosinophilic_gastrointestinal_symptoms_in_individuals_with_a_missense_mutation_in_CKLF-like_MARVEL_transmembrane_domain_containing_3/14743107Test |
| حقوق: |
All Rights Reserved |
| رقم الانضمام: |
edsbas.ADBBA681 |
| قاعدة البيانات: |
BASE |
