No abstract available
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Amino Acid Substitution
-
Animals
-
COS Cells
-
DNA / chemistry
-
DNA / genetics
-
DNA Mutational Analysis
-
Fabry Disease / enzymology
-
Fabry Disease / genetics*
-
Fabry Disease / pathology
-
Gene Expression Regulation, Enzymologic
-
Heterozygote
-
Humans
-
Male
-
Methionine
-
Mutation, Missense
-
Point Mutation
-
Valine
-
alpha-Galactosidase / genetics*
-
alpha-Galactosidase / metabolism
Substances
-
DNA
-
Methionine
-
alpha-Galactosidase
-
Valine