| 000 | 01056 a2200313 4500 | ||
|---|---|---|---|
| 005 | 20250517093848.0 | ||
| 264 | 0 | _c20161213 | |
| 008 | 201612s 0 0 eng d | ||
| 022 | _a1941-5923 | ||
| 024 | 7 |
_a10.12659/ajcr.897024 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOzelsancak, Ruya | |
| 245 | 0 | 0 |
_ap.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. _h[electronic resource] |
| 260 |
_bThe American journal of case reports _cMay 2016 |
||
| 300 |
_a315-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aFabry Disease _xgenetics |
| 650 | 0 | 4 |
_aGlomerulosclerosis, Focal Segmental _xetiology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xgenetics |
| 700 | 1 | _aUyar, Bulent | |
| 773 | 0 |
_tThe American journal of case reports _gvol. 17 _gp. 315-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.12659/ajcr.897024 _zAvailable from publisher's website |
| 999 |
_c25998726 _d25998726 |
||