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