000 | 01347 a2200325 4500 | ||
---|---|---|---|
005 | 20250516135046.0 | ||
264 | 0 | _c20140508 | |
008 | 201405s 0 0 eng d | ||
022 | _a1530-0366 | ||
024 | 7 |
_a10.1038/gim.2012.180 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _ade Heredia, Miguel López | |
245 | 0 | 0 |
_aGenotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. _h[electronic resource] |
260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _cJul 2013 |
||
300 |
_a497-506 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAge of Onset |
650 | 0 | 4 |
_aDiabetes Insipidus _xgenetics |
650 | 0 | 4 |
_aDiabetes Mellitus _xepidemiology |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOptic Atrophy _xgenetics |
650 | 0 | 4 |
_aWolfram Syndrome _xclassification |
700 | 1 | _aClèries, Ramón | |
700 | 1 | _aNunes, Virginia | |
773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 15 _gno. 7 _gp. 497-506 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2012.180 _zAvailable from publisher's website |
999 |
_c22523361 _d22523361 |