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Results 91 - 100 of 148 for Down syndrome
  1. OPA1 gene 
    ... which is likely to be unstable and broken down quickly. The most common mutation that causes optic ... retinal ganglion cells die, the optic nerves break down (atrophy) and cannot transmit visual information to the ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  2. SDHD gene 
    ... reaction that would allow HIF to be broken down. HIF controls several important genes involved in cell ... either cannot form or is unstable and broken down quickly. As a result, there is little or ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  3. SDHC gene 
    ... reaction that would allow HIF to be broken down. HIF controls several important genes involved in cell ... either cannot form or is unstable and broken down quickly. As a result, there is little or ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  4. SLC25A15 gene 
    ... occurs in liver cells. The urea cycle breaks down excess nitrogen, made when protein is broken down by the body, to make a compound called ... mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct;60(4):423-9. ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  5. BOLA3 gene 
    ... cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine ... of an altered protein that is likely broken down quickly. Although some mutations affect both isoforms of ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  6. NFU1 gene 
    ... cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine ... altered NFU-1 protein that is likely broken down quickly. Although some mutations affect both isoforms of ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  7. HSD17B4 gene 
    ... which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is ... protein's enzymatic activities prevents it from breaking down fatty acids efficiently. As a result, these fatty ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  8. NAGLU gene 
    ... together to form a long string. To break down these large molecules, individual sugars are removed one ... called heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics
  9. HGSNAT gene 
    ... together to form a long string. To break down these large molecules, individual sugars are removed one ... of heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that ...
    https://medlineplus.gov/genetics/gene/hgsnat - Genetics
  10. SGSH gene 
    ... together to form a long string. To break down these large molecules, individual sugars are removed one ... called heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that ...
    https://medlineplus.gov/genetics/gene/sgsh - Genetics
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