| 000 | 01453 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517093429.0 | ||
| 264 | 0 | _c20170428 | |
| 008 | 201704s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-016-0297-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKnebel, Birgit | |
| 245 | 0 | 0 |
_aDivergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cMay 2016 |
||
| 300 |
_a36 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aDiabetes Mellitus, Type 2 _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHepatocyte Nuclear Factor 1-alpha _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aINDEL Mutation |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 700 | 1 | _aMack, Susanne | |
| 700 | 1 | _aHaas, Jutta | |
| 700 | 1 | _aHerman-Friede, Mona Kathrin | |
| 700 | 1 | _aLange, Simone | |
| 700 | 1 | _aSchubert, Oliver | |
| 700 | 1 | _aKotzka, Jorg | |
| 700 | 1 | _aMuller-Wieland, Dirk | |
| 773 | 0 |
_tBMC medical genetics _gvol. 17 _gno. 1 _gp. 36 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-016-0297-z _zAvailable from publisher's website |
| 999 |
_c25985218 _d25985218 |
||