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Results 1 - 10 of 215 for version cases
  1. PPT1 gene 
    ... This mutation results in an abnormally short, nonfunctional version of the enzyme. Another mutation causes most cases of the disorder in people of Finnish descent; ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  2. CYLD cutaneous syndrome 
    ... of the gene, while others have the mutated version. This situation is called mosaicism. As in inherited cases, a second somatic mutation in the normal copy ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  3. PAFAH1B1 gene 
    ... to the production of an abnormally small, nonfunctional version of the PAFAH1B1 protein. PAFAH1B1 gene mutations account for more than half of all ILS cases.PAFAH1B1 gene mutations cause PAF levels to be ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  4. LYST gene 
    ... protein. The mutations responsible for the milder, adult version of this disease usually change a single protein building block (amino acid) in the protein. In these cases, the altered protein may retain some function.People ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  5. FHL1 gene 
    ... lead to the FHL1-related myopathies. In some cases, mutations lead to the production of a nonfunctional version of the protein or no protein at all. ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  6. What are the different ways a genetic condition can be inherited?: MedlinePlus Genetics 
    ... from father to son. Y chromosome infertility , some cases of Swyer syndrome Codominant In codominant inheritance , two different versions (alleles) of a gene are expressed, and each ...
    https://medlineplus.gov/.../inheritance/inheritancepatterns - Genetics
  7. Fragile XE syndrome 
    ... proteins is cut and rearranged to produce different versions of the protein (alternative splicing). Researchers are working to determine which genes and proteins are affected by AFF2.Nearly all cases of fragile XE syndrome occur when a region ...
    https://medlineplus.gov/genetics/condition/fragile-xe-syndrome - Genetics
  8. CLRN1 gene 
    ... acids) in the clarin 1 protein. In some cases, these mutations lead to the production of an abnormally short version of the protein or prevent the production of ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  9. EMD gene 
    ... mutations lead to the production of an abnormal version of emerin that is unable to interact with other proteins or cannot be correctly inserted into the nuclear envelope. This type of mutation may be responsible for some cases of Emery-Dreifuss muscular dystrophy with unusually mild ...
    https://medlineplus.gov/genetics/gene/emd - Genetics
  10. Mowat-Wilson syndrome 
    ... cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
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