000 02092 a2200673 4500
005 20250516225831.0
264 0 _c20150311
008 201503s 0 0 eng d
022 _a1939-327X
024 7 _a10.2337/db14-0104
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKozusko, K
245 0 0 _aClinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.
_h[electronic resource]
260 _bDiabetes
_cJan 2015
300 _a299-310 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _a1-Acylglycerol-3-Phosphate O-Acyltransferase
_xmetabolism
650 0 4 _a3T3-L1 Cells
650 0 4 _aAdipocytes, White
_xphysiology
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAmino Acid Sequence
650 0 4 _aAnimals
650 0 4 _aBase Sequence
650 0 4 _aCarrier Proteins
_xgenetics
650 0 4 _aDiabetes Mellitus, Type 2
_xgenetics
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aHumans
650 0 4 _aHyperlipoproteinemia Type IV
_xgenetics
650 0 4 _aInsulin Resistance
_xgenetics
650 0 4 _aLipodystrophy, Familial Partial
_xgenetics
650 0 4 _aMale
650 0 4 _aMice
650 0 4 _aMiddle Aged
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutagenesis, Site-Directed
650 0 4 _aPedigree
650 0 4 _aPerilipin-1
650 0 4 _aPhosphoproteins
_xgenetics
700 1 _aTsang, Vhm
700 1 _aBottomley, W
700 1 _aCho, Y H
700 1 _aGandotra, S
700 1 _aMimmack, M L
700 1 _aLim, K
700 1 _aIsaac, I
700 1 _aPatel, Satish
700 1 _aSaudek, V
700 1 _aO'Rahilly, S
700 1 _aSrinivasan, S
700 1 _aGreenfield, J R
700 1 _aBarroso, I
700 1 _aCampbell, L V
700 1 _aSavage, D B
773 0 _tDiabetes
_gvol. 64
_gno. 1
_gp. 299-310
856 4 0 _uhttps://doi.org/10.2337/db14-0104
_zAvailable from publisher's website
999 _c24089818
_d24089818