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Article

A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 1 Aug 2020

Ciftciler Rafiye, Yılmaz Engin, Buyukasik Yahya

Abstract excerpt

A genetic mutation was detected by our clinic in two sisters in a family with low iron levels and mild symptoms. We identified this missense mutation in the FTL gene (c.473T > C; p.Pro158Leu, rs374486686) of the sisters who had weakness symptom and low serum ferritin level. This mutation causes the codon CCG changing into CTG, thus composing an amino acid substitution in which proline 158 is replaced by leucine....

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PMID: 32241646
DOI: 10.1016/j.transci.2020.102764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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