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Beta thalassemia is a very common type of blood disease seen in Turkey as well as other mediterranean countries. Although...
Sickle Cell Anemia is a kind of typical blood disease showing autosomal recessive character and it can be characterized by...
Alpha thalassemia has clinically 2 significant forms. These are Bart hydrops fotalis hemoglobin (Hb Bart) syndrome and hemoglobin H (HBH)...
Cystic fibrosis is an autosomal recessive disease which is characterized by observed elevation in the sweat chloride concentration via evidences...
Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations...
Spinal Muscular Atrophy (SMA) is clinically characterized by progressive muscle weakness depending upon the degeneration in the anterior horn cells...
Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a...
Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500...
Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The...
Hereditary hemochromatosis (HH) which is transmitted as an autosomal recessive trait, is a common disease related to iron metabolism. Hereditary...
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