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Results 81 - 90 of 215 for version cases
  1. BRCA1 gene 
    ... lead to the production of an abnormally short version of the BRCA1 protein or prevent any protein ... of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version Nelson HD, Fu R, Goddard K, Mitchell JP, ...
    https://medlineplus.gov/genetics/gene/brca1 - Genetics
  2. ASPA gene 
    ... production and leads to an abnormally small, nonfunctional version of the enzyme.A different ASPA gene mutation ... also leads to the production of a nonfunctional version of the enzyme. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  3. TPO gene 
    ... called follicular cells. Thyroid peroxidase has several different versions (isoforms), which vary by size and location within the cell. Some versions do not function because they are not located ...
    https://medlineplus.gov/genetics/gene/tpo - Genetics
  4. TSC1 gene 
    ... of the body's cells have a normal version of the gene, while others have the altered version. This situation is called mosaicism. When a variant ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  5. GM1 gangliosidosis 
    ... in the brain.The GLB1 gene variants produce versions of β-galactosidase that are not as effective at breaking down GM1 ganglioside as the normal version of the enzyme. Without enough functional β-galactosidase, ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  6. MAOA gene 
    ... only two or three times. For this reason, versions of DNA (alleles) with 3.5 or four repeats are referred to as high-activity alleles. Versions with only two or three repeats, which result ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  7. GLDC gene 
    ... mutations lead to the production of a nonfunctional version of glycine dehydrogenase, while other mutations reduce but ... eliminate the enzyme's activity. When an altered version of this enzyme is incorporated into the glycine ...
    https://medlineplus.gov/genetics/gene/gldc - Genetics
  8. Alternating hemiplegia of childhood 
    ... protein complex called Na+/K+ ATPase; the two versions of the complex are found in different parts of the brain. Both versions play a critical role in the normal function ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  9. Lactate dehydrogenase deficiency 
    ... up the different forms of the enzyme.The version of lactate dehydrogenase made of four lactate dehydrogenase- ... by people with lactate dehydrogenase-A deficiency.The version of lactate dehydrogenase made of four lactate dehydrogenase- ...
    https://medlineplus.gov/.../lactate-dehydrogenase-deficiency - Genetics
  10. PEX7 gene 
    ... with RCDP1 often lead to a completely nonfunctional version of peroxisomal biogenesis factor 7 or prevent cells ... or L292X). This mutation leads to a nonfunctional version of the protein.The PEX7 gene mutations responsible ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
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