Application | Comment | Organism |
---|---|---|
medicine | mutation A117 leads to purine-nucleoside phosphorylase deficiency. Mutation occured in two sisters with a fatal course due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A117T | mutation leading to purine-nucleoside phosphorylase deficiency, occuring in two sisters | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |