000 | 01349 a2200421 4500 | ||
---|---|---|---|
005 | 20250517064623.0 | ||
264 | 0 | _c20170111 | |
008 | 201701s 0 0 eng d | ||
022 | _a2190-3883 | ||
024 | 7 |
_a10.1007/s13353-015-0328-z _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aZiemnicka, K | |
245 | 0 | 0 |
_aTwo coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. _h[electronic resource] |
260 |
_bJournal of applied genetics _cAug 2016 |
||
300 |
_a373-81 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aFrameshift Mutation |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHypopituitarism _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aPhenotype |
700 | 1 | _aBudny, B | |
700 | 1 | _aDrobnik, K | |
700 | 1 | _aBaszko-Błaszyk, D | |
700 | 1 | _aStajgis, M | |
700 | 1 | _aKatulska, K | |
700 | 1 | _aWaśko, R | |
700 | 1 | _aWrotkowska, E | |
700 | 1 | _aSłomski, R | |
700 | 1 | _aRuchała, M | |
773 | 0 |
_tJournal of applied genetics _gvol. 57 _gno. 3 _gp. 373-81 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s13353-015-0328-z _zAvailable from publisher's website |
999 |
_c25487090 _d25487090 |