A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
OT Njajou, N Vaessen, M Joosse, B Berghuis… - Nature …, 2001 - nature.com
OT Njajou, N Vaessen, M Joosse, B Berghuis, JWF van Dongen, MH Breuning…
Nature genetics, 2001•nature.comHereditary hemochromatosis (HH) is a very common disorder characterized by iron overload
and multi-organ damage. Several genes involved in iron metabolism have been implicated
in the pathology of HH (refs. 1–4). We report that a mutation in the gene encoding Solute
Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with
autosomal dominant hemochromatosis.
and multi-organ damage. Several genes involved in iron metabolism have been implicated
in the pathology of HH (refs. 1–4). We report that a mutation in the gene encoding Solute
Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with
autosomal dominant hemochromatosis.
Abstract
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1–4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.
nature.com