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Results 1 - 10 of 20 for Substitute
  1. FGFR3 gene 
    ... developmental delays. The variant that causes Muenke syndrome substitutes the amino acid arginine for the amino acid ... skin. The genetic change that causes this condition substitutes the amino acid methionine for the amino acid ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. COL7A1 gene 
    ... third amino acid is a glycine. Mutations that substitute other amino acids for glycine in this region ... are most commonly associated with DDEB, mutations that substitute glycine amino acids in the triple helical domain ...
    https://medlineplus.gov/genetics/gene/col7a1 - Genetics
  3. ENG gene 
    ... hemorrhagic telangiectasia type 1. Many ENG gene mutations substitute one protein building block (amino acid) for another ...
    https://medlineplus.gov/genetics/gene/eng - Genetics
  4. ASPA gene 
    ... are not of Ashkenazi Jewish descent. This mutation substitutes the amino acid glutamic acid for the amino ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  5. CLRN1 gene 
    ... Met120Lys or M120K and also known as Finminor, substitutes the amino acid lysine for the amino acid ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  6. RET gene 
    ... 2A most often results from a mutation that substitutes the amino acid arginine for the amino acid ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  7. GALT gene 
    ... in people of African descent. This genetic change substitutes the amino acid leucine for the amino acid ...
    https://medlineplus.gov/genetics/gene/galt - Genetics
  8. CBS gene 
    ... in cystathionine beta-synthase. The most common mutation substitutes the amino acid threonine for the amino acid ...
    https://medlineplus.gov/genetics/gene/cbs - Genetics
  9. ACVR1 gene 
    ... individuals with the classic features of the condition, substitutes the protein building block (amino acid) histidine for ...
    https://medlineplus.gov/genetics/gene/acvr1 - Genetics
  10. CP gene 
    ... aceruloplasminemia have been identified. Some of these mutations substitute one protein building block (amino acid) for another ...
    https://medlineplus.gov/genetics/gene/cp - Genetics
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