Associated Papers
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
Macias I et al.
The Journal of Biological Chemistry, 2019
31300554 (PubMed )
Supplement: supp_RA119.009367_152848_2_supp_361587_pch9lf.pdf
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.
Du W et al.
Human Mutation, 2006
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