TY  - GEN
AU  - Ozelsancak,Ruya
AU  - Uyar,Bulent
TI  - p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
SN  - 1941-5923
PY  - 2016///1213
KW  - Adult
KW  - Codon, Nonsense
KW  - Fabry Disease
KW  - genetics
KW  - Glomerulosclerosis, Focal Segmental
KW  - etiology
KW  - Humans
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - alpha-Galactosidase
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.12659/ajcr.897024
ER  -