Congenital erythrocytosis - discover of a new mutation in theEGLN1gene
نویسندگان
چکیده
منابع مشابه
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor ge...
متن کاملCongenital erythrocytosis.
INTRODUCTION Congenital erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an erythrocytosis. MATERIAL AND METHODS Prim...
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15 صفحه اولA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Hereditary hemochromatosis (HH) is an inherited iron overload disorder, particularly prevalent in Irish and Scandinavian populations (1), characterised by abnormal iron metabolism, leading to excess iron deposition in the parenchymal cells of the liver, heart, and endocrine organs. HH is commonly associated with mutations in the HFE gene and in other genes such as HJV, that regulate the biology...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2018
ISSN: 2050-0904
DOI: 10.1002/ccr3.1499