p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.

Ozelsancak, Ruya

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. [electronic resource] - The American journal of case reports May 2016 - 315-9 p. digital

Publication Type: Case Reports; Journal Article

1941-5923

10.12659/ajcr.897024 doi


Adult
Codon, Nonsense
Fabry Disease--genetics
Glomerulosclerosis, Focal Segmental--etiology
Humans
Male
Pedigree
Phenotype
alpha-Galactosidase--genetics