Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding
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چکیده
منابع مشابه
Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.
521 Normal iron homeostasis requires close matching of dietary iron absorption with body iron needs (1). Hereditary hemochromatosis (HH), a common abnormality of iron metabolism, is characterized by excess absorption of dietary iron despite elevated stores, and secondary damage to the liver, pancreas, and other organs (2). Classic HH is caused by mutation of the HFE gene and is inherited as an ...
متن کاملAutosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent. It is usually inherited in an autosomal-recessive pattern and associated with missense mutations in HFE, an atypical major histocompatibility class I gene. Recently, we described a large family with autosomal-dominant hemochromatosis not linked to HFE and distinguished by early iron ...
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Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromo...
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15 صفحه اولAutosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
Congenital hypothyroidism (CH) is a relatively frequent and potentially severe disease. It is classically subdivided into: 1) thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to hypoplastic, ectopic, or absent thyroid gland; or 2) thyroid dyshormonogenesis, a defect in one of the biochemical mechanisms responsible for thyroid hormone synthesis. Most cases of TD are sp...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2001
ISSN: 0021-9738
DOI: 10.1172/jci13739