| 000 | 01852 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515115104.0 | ||
| 264 | 0 | _c20080915 | |
| 008 | 200809s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2008.02.013 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThiel, Christian T | |
| 245 | 0 | 0 |
_aTwo novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cJul 2008 |
||
| 300 |
_a356-62 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAntigens, CD _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCell Nucleus _xmetabolism |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xcomplications |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGrowth Disorders _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aInsulin _xmetabolism |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xphysiology |
| 650 | 0 | 4 |
_aProtein Binding _xgenetics |
| 650 | 0 | 4 |
_aProtein Subunits _xgenetics |
| 650 | 0 | 4 |
_aReceptor, Insulin _xgenetics |
| 650 | 0 | 4 | _aSequence Homology, Nucleic Acid |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aKnebel, Birgit | |
| 700 | 1 | _aKnerr, Ina | |
| 700 | 1 | _aSticht, Heinrich | |
| 700 | 1 | _aMüller-Wieland, D | |
| 700 | 1 | _aZenker, Martin | |
| 700 | 1 | _aReis, Andre | |
| 700 | 1 | _aDörr, Helmuth-Günther | |
| 700 | 1 | _aRauch, Anita | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 94 _gno. 3 _gp. 356-62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2008.02.013 _zAvailable from publisher's website |
| 999 |
_c17909227 _d17909227 |
||