A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

OBJECTIVE: Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. Heterozygote mutations in the 5’ untranslated region of the L-ferritin gene (FTL) have bee...

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Detalles Bibliográficos
Autores principales: Balta, Burhan, Erdoğan, Murat, Kiraz, Aslıhan, Korkmaz, Serdal, Ağadayı, Alperen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373503/
https://www.ncbi.nlm.nih.gov/pubmed/30401656
http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373503/
https://www.ncbi.nlm.nih.gov/pubmed/30401656
http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0194

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