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protein defect
- ... in the hemoglobin molecules inside red blood cells Defects of the proteins that make up the internal framework of red ...
- Hemoglobin is made of two proteins: Alpha globin Beta globin Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. There are two main types of thalassemia: Alpha thalassemia ...
- ... an allergy. It may also be caused by defects in certain proteins in the surface of the skin. This leads ...
- ... into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of ...
- ... condition will occur. The FMR1 gene makes a protein needed for your brain to function properly. A defect in the gene makes your body produce too ...
- ... called hemoglobin M disease. It is caused by defects in the hemoglobin protein itself. Only one parent needs to pass on ...
- ... deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and ...
- ... cells CSF total protein -- tests the amount of protein in cerebrospinal fluid (CSF) Genetic testing for the GALC gene defect MRI of the head Nerve conduction velocity
- ... gene. This gene provides instructions for making a protein that helps control the rate at which cells grow and divide. Defects in this gene can lead to abnormal cell ...
- ... kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder ...