نتایج جستجو برای: x linked diseases
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GATA-1, an X-linked gene, encodes a transcription factor that plays a role in erythropoiesis and megakaryopoiesis. GATA-1 mutations have been associated with various diseases, such as X-linked thrombocytopenia. ALAS2 is an X-linked erythroid-specific isoenzyme expressed during erythropoiesis. Mutations of ALAS2 were associated with X-linked sideroblastic anemia. We report a case of newborn twin...
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kennedy disease is a rare x-linked neurodegenerative disorder that affects patients in 30-50 years of age. it is caused by cag-repeat in androgen receptor gen. there is no known effective treatment for kennedy disease. we report a 60-year-old man who had fasciculations and proximal and distal muscle weakness. physical examination showed involvement of the bulbar musculature accompanied by tongu...
x-linked agammaglobulinemia (xla) is an immunodeficiency caused by mutations in the bruton tyrosine kinase (btk) gene. in order to identify the mutations in btk gene in iranian patients with antibody deficiency, 13 male patients with an xla phenotype from 11 unrelated families were enrolled as the subjects of investigation for btk mutation analysis using pcr-sscp followed by sequencing. five di...
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