Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Amir Ghorbani Aghbolaghi"'
Publikováno v:
Autopsy and Case Reports, Vol 7, Iss 2 (2017)
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-domin
Externí odkaz:
https://doaj.org/article/6d2f94cc2afd4faca2a2afeec51a3287
Publikováno v:
Autopsy & Case Reports
Autopsy and Case Reports, Vol 7, Iss 3 (2017)
Autopsy and Case Reports, Vol 7, Iss 3 (2017)
Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7772d5d406fb96a4b9128b4ddac2f9dd
http://europepmc.org/articles/PMC5634432
http://europepmc.org/articles/PMC5634432
Autor:
Mirna Lechpammer, Nam K. Ku, Denis M. Dwyre, Hooman H. Rashidi, Saba Fatima Ali, Amir Ghorbani-Aghbolaghi
Publikováno v:
Autopsy & Case Reports
Autopsy and Case Reports, Vol 7, Iss 3 (2017)
Autopsy and Case Reports, Vol 7, Iss 3 (2017)
BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf65b30fd88b8d2cffc04e715492643
http://europepmc.org/articles/PMC5634429
http://europepmc.org/articles/PMC5634429