| 000 | 01253 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250516134958.0 | ||
| 264 | 0 | _c20130424 | |
| 008 | 201304s 0 0 eng d | ||
| 022 | _a0334-018X | ||
| 024 | 7 |
_a10.1515/jpem-2012-0155 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKaraca, Emin | |
| 245 | 0 | 0 |
_aAnalysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele. _h[electronic resource] |
| 260 |
_bJournal of pediatric endocrinology & metabolism : JPEM _c2012 |
||
| 300 |
_a957-62 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGaucher Disease _xgenetics |
| 650 | 0 | 4 |
_aGlucosylceramidase _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aTurkey |
| 700 | 1 | _aKalkan, Sema | |
| 700 | 1 | _aOnay, Huseyin | |
| 700 | 1 | _aAykut, Ayca | |
| 700 | 1 | _aCoker, Mahmut | |
| 700 | 1 | _aOzkinay, Ferda | |
| 773 | 0 |
_tJournal of pediatric endocrinology & metabolism : JPEM _gvol. 25 _gno. 9-10 _gp. 957-62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1515/jpem-2012-0155 _zAvailable from publisher's website |
| 999 |
_c22520871 _d22520871 |
||