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Results 71 - 80 of 2,061 for Lead
  1. GRIN2A gene 
    ... symptoms of intermediate severity.Many GRIN2A gene mutations lead to production of a nonfunctional GluN2A protein or ... of any protein at all. These mutations likely lead to a reduced number of NMDA receptors containing ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  2. ELN gene 
    ... breathe.The ELN gene variants that cause ADCL1 lead to the production of an abnormal version of ... of the ELN gene variants that cause SVAS lead to a decrease in the production of tropoelastin. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  3. CDC73 gene 
    ... blood. Primary hyperparathyroidism disrupts this balance, which can lead to high levels of calcium in the blood ( ... balance of calcium in the blood, which can lead to kidney stones, osteoporosis, nausea, vomiting, hypertension, weakness, ...
    https://medlineplus.gov/genetics/gene/cdc73 - Genetics
  4. SLC52A3 gene 
    ... disease. The gene mutations involved in this condition lead to production of abnormal RFVT3 proteins. Some mutations lead to the production of an altered protein that ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  5. BEST1 gene 
    ... within the retina (the choroid). These abnormalities can lead to vision impairment.BEST1 gene mutations involved in ... instructions are used to make bestrophin-1, which leads to production of versions of the protein that ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  6. MPL gene 
    ... turned on (constitutively activated), which, in essential thrombocythemia, leads to the overproduction of abnormal megakaryocytes and an ... of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia. ...
    https://medlineplus.gov/genetics/gene/mpl - Genetics
  7. FLCN gene 
    ... amino acids) in the folliculin protein. These mutations lead to the production of an abnormally small, nonfunctional ... Researchers have not determined how FLCN gene mutations lead to the development of primary spontaneous pneumothorax. One ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
  8. COL6A3 gene 
    ... type VI collagen in different ways. Some variants lead to altered α3(VI) chains that can be ... VI collagen. All of these COL6A3 gene variants lead to a reduction or absence of functional collagen ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  9. KAT6B gene 
    ... a region known as exon 18. These mutations lead to the production of a shortened histone acetyltransferase ... function." However, it is unclear how these changes lead to the specific features of genitopatellar syndrome. More ...
    https://medlineplus.gov/genetics/gene/kat6b - Genetics
  10. VHL gene 
    ... vessels when they are not needed, which can lead to the development of paraganglioma or pheochromocytoma. More ... oxygen is available. The presence of extra HIF leads to the production of red blood cells when ...
    https://medlineplus.gov/genetics/gene/vhl - Genetics
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