Heterozygous mutations in BMP6 pro-peptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans

Heterozygous mutations in BMP6 pro-peptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans

R Daher, C Kannengiesser, D Houamel, T Lefebvre… - Gastroenterology, 2016 - Elsevier

... amino acids, comprising an N-terminal signal peptide sequence, a prodomain for proper folding,
and a C-terminal–secreted mature peptide sequence of ... Serum hepcidin levels were determined
with an enzyme immunoassay (Peninsula Laboratories, Bachem, San Carlos, CA). ...

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