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Results 1 - 10 of 1,055 for Lead
  1. FGFR3 gene 
    ... common form of short-limbed dwarfism. Both variants lead to the same change in the FGFR3 protein. ... causes the receptor to be overly active, which leads to the disturbances in bone growth that occur ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. ALAD gene 
    ... ALAD gene may affect the risk of developing lead poisoning in people exposed to environmental lead. Lead is a heavy metal that is toxic when inhaled or ingested. Lead poisoning can cause significant health problems involving the ...
    https://medlineplus.gov/genetics/gene/alad - Genetics
  3. LAMA3 gene 
    ... of functional laminin 332. Most of these mutations lead to a premature stop signal in the instructions ... for milder cases of junctional epidermolysis bullosa usually lead to the production of a laminin 332 protein ...
    https://medlineplus.gov/genetics/gene/lama3 - Genetics
  4. SLC4A1 gene 
    ... renal tubular acidosis, a kidney (renal) disorder that leads to the buildup of acid in the blood ( ... ovalocytosis (described below). The blood cell abnormalities can lead to hemolytic anemia, in which the abnormal red ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  5. KIT gene 
    ... group) at specific positions. This process, called phosphorylation, leads to the activation of a series of proteins ... in those areas. The mutations responsible for piebaldism lead to a nonfunctional KIT protein. The loss of ...
    https://medlineplus.gov/genetics/gene/kit - Genetics
  6. POLG gene 
    ... DNA. These effects impair DNA synthesis and may lead to insertion of the wrong nucleotide and decreased ... It is unclear how the same variant can lead to different conditions.Although the mechanism is unknown, ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  7. PIK3CA gene 
    ... than normal. The resulting overgrowth of skin cells leads to formation of epidermal nevi. The genetic changes ... amino acids) in the p110α protein. These changes lead to production of an altered p110α subunit that ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  8. NOTCH1 gene 
    ... of cancer; mutations that impair tumor suppressors can lead to cancer development. At least 15 mutations in ... NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short protein that ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  9. COL2A1 gene 
    ... blocks (nucleotides) in the COL2A1 gene. These variants lead to the production of abnormally short pro-alpha1( ... and other connective tissues from developing properly, which leads to the features of Kniest dysplasia. More About ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  10. MECP2 gene 
    ... blocks (base pairs).Duplication of the MECP2 gene leads to the production of extra MeCP2 protein and ... gene regulation and protein production in the brain lead to abnormal neuronal function. These neuronal changes disrupt ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
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