اهمیت بالینی
ویرایش
نقص در ژن زنجیره سبک فریتین با بروز چندین نوع بیماری تخریب‌کنندهٔ اعصاب مرتبط است که یکی از آنها «سندرم هایپرفریتینمی -آب‌مروارید » است.[۷]
همچنین جهش در این ژن سبب بروز نوع نادری از بیماری هستهٔ قاعده‌ای مغز در بالغین موسوم به «نوروفریتینوپاتی» می‌گردد.[۸]
جستارهای وابسته
ویرایش
↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ Lebo RV, Kan YW, Cheung MC, Jain SK, Drysdale J (December 1985). "Human ferritin light chain gene sequences mapped to several sorted chromosomes" . Hum. Genet . 71 (4): 325–8. doi :10.1007/BF00388458 . PMID 3000916 . ↑ Gasparini P, Calvano S, Memeo E, Bisceglia L, Zelante L (Apr 1997). "Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization". Ann. Genet . 40 (4): 227–8. PMID 9526618 . {{cite journal }}: نگهداری یادکرد:تاریخ و سال (link )↑ "FTL ferritin, light polypeptide" . National Center for Biotechnology Information . 5 July 2009. Retrieved 20 July 2009 .↑ Zhang Y, Zhang YL, Feng C, Wu YT, Liu AX, Sheng JZ, Cai J, Huang HF (October 2008). "Comparative proteomic analysis of human placenta derived from assisted reproductive technology". Proteomics . 8 (20): 4344–56. doi :10.1002/pmic.200800294 . PMID 18792929 . ↑ Zandman-Goddard G, Shoenfeld Y (2007). "Ferritin in autoimmune diseases". Autoimmun Rev . 6 (7): 457–63. doi :10.1016/j.autrev.2007.01.016 . PMID 17643933 . ↑ Gregory A, Hayflick SJ (2011). "Genetics of neurodegeneration with brain iron accumulation". Curr Neurol Neurosci Rep . 11 (3): 254–61. doi :10.1007/s11910-011-0181-3 . PMID 21286947 .
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ویرایش
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