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Lead
- ... abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of ... nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the ...
- ... cause bleeding into the gastrointestinal tract, which may lead to low red blood cell counts (anemia) and, ... PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in ...
- ... blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and ... spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes ...
- ... of the neck and back as well as lead to chronic headaches and muscle pain in the ... the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or ...
- ... growth because of their liver problems, which can lead to short stature. In a small percentage of ... to use for fuel.Most AGL gene mutations lead to the production of a nonfunctional glycogen debranching ...
- ... acid tyrosine at position 293. This genetic change leads to production of a protein that is unstable ... mechanism is unclear, the reduction of FKBP10 protein leads to a severe decrease in collagen hydroxylation, which ...
- ... called chronic myeloid leukemia. This slow-growing cancer leads to an overproduction of abnormal white blood cells. ... abnormally and prevents them from self-destructing, which leads to overproduction of the abnormal cells.The Philadelphia ...
- ... called chronic myeloid leukemia. This slow-growing cancer leads to an overproduction of abnormal white blood cells. ... abnormally and prevents them from self-destructing, which leads to overproduction of the abnormal cells and a ...
- ... strong barrier. In addition, processing of filaggrin proteins leads to production of molecules that are part of ... identified in people with atopic dermatitis. These mutations lead to production of an abnormally short profilaggrin molecule ...
- ... the FBN1 gene mutations that cause acromicric dysplasia lead to short stature, while certain other FBN1 gene ... or both eyes is off-center (displaced), which leads to vision problems. Most of the FBN1 gene ...