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The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotypedExpand
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PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations. In sporadic forms of the disease, somatic mutations target eitherExpand
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Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPHExpand
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A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload
The best known type of inherited hyperferritinemia not related to iron overload is the hyperferritinemia-cataract syndrome (OMIM #600886), caused by a mutation in the iron-responsive element in theExpand
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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in theExpand
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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyteExpand
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Iron refractory iron deficiency anemia
Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays anExpand
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Familial pulmonary fibrosis.
The occurrence of pulmonary fibrosis in numerous individuals from the same family suggests a genetic cause for the disease. During the last 10 years, mutations involving proteins from the telomeraseExpand
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Not all DMT1 mutations lead to iron overload.
DMT1 is a membrane-bound divalent metal transporter, which co-transports protons and (Fe(2+)) from an acidic microenvironment (endosome, duodenal lumen) to the cell cytosol. Results from animalExpand
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and someExpand
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