Found 3 datasets matching "splice-mutation".
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Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the...
Search relevance: 138.49 | Views last month: 0 -
Background Mutation analysis of the neurofibromatosis type 1 (NF1) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several...
Search relevance: 85.24 | Views last month: 0 -
Background Mutations in the CHK2 gene at chromosome 22q12.1 have been reported in families with Li-Fraumeni syndrome. Chk2 is an effector kinase that is activated in response to DNA...
Search relevance: 57.19 | Views last month: 1
