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Results 1 - 10 of 94 for Base
  1. SPTLC1 gene 
    ... activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of ... SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of ...
    https://medlineplus.gov/genetics/gene/sptlc1 - Genetics
  2. MUTYH gene 
    ... formation. This type of repair is known as base excision repair. Mutations in the MUTYH gene cause ... a nonfunctional or low-functioning MYH glycosylase. When base excision repair in the cell is impaired, mutations ...
    https://medlineplus.gov/genetics/gene/mutyh - Genetics
  3. GJB2 gene 
    ... cause DFNB1 delete or insert DNA building blocks (base pairs) within or near the GJB2 gene. The ... in people of northern European descent, deletes one base pair at position 35 in the GJB2 gene ( ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  4. MECP2 gene 
    ... 000 to a few million DNA building blocks (base pairs).Duplication of the MECP2 gene leads to ... in females. Most of these mutations change single base pairs, insert or delete base pairs in the ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  5. F9 gene 
    ... most common mutations change single DNA building blocks (base pairs) in the gene. A small percentage of mutations delete or insert multiple base pairs or rearrange segments of DNA within the ...
    https://medlineplus.gov/genetics/gene/f9 - Genetics
  6. AR gene 
    ... variants are changes in single DNA building blocks (base pairs). Other variants insert or delete multiple base pairs in the gene. Some variants lead to ...
    https://medlineplus.gov/genetics/gene/ar - Genetics
  7. PTEN gene 
    ... Riley-Ruvalcaba syndrome change single DNA building blocks (base pairs) in the PTEN gene or insert or delete a small number of base pairs. Other mutations result in an abnormally short ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  8. DRD5 gene 
    ... The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a ... of this segment ranges from 134 to 156 base pairs. Multiple studies have suggested that a particular ...
    https://medlineplus.gov/genetics/gene/drd5 - Genetics
  9. TG gene 
    ... or change one of the DNA building blocks (base pairs). As a result, the 3-dimensional shape ... TG gene or change one of the DNA base pairs. As a result, the 3-dimensional shape ...
    https://medlineplus.gov/genetics/gene/tg - Genetics
  10. SLITRK1 gene 
    ... as del1264C, deletes a single DNA building block (base pair) from the gene. This mutation leads to ... the SLITRK1 protein. Another mutation changes a single base pair in a region of DNA near the ...
    https://medlineplus.gov/genetics/gene/slitrk1 - Genetics
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