000 01814 a2200565 4500
005 20250513070805.0
264 0 _c19940201
008 199402s 0 0 eng d
022 _a0012-186X
024 7 _a10.1007/BF00401062
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMüller-Wieland, D
245 0 0 _aAn in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
_h[electronic resource]
260 _bDiabetologia
_cNov 1993
300 _a1168-74 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Sequence
650 0 4 _aCells, Cultured
650 0 4 _aChild
650 0 4 _aDNA Primers
650 0 4 _aDNA Transposable Elements
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aHumans
650 0 4 _aInsulin
_xmetabolism
650 0 4 _aInsulin Resistance
_xgenetics
650 0 4 _aKinetics
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aPhosphorylation
650 0 4 _aPoint Mutation
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aReceptor, IGF Type 1
_xmetabolism
650 0 4 _aReceptor, Insulin
_xgenetics
650 0 4 _aSkin
_xmetabolism
650 0 4 _aSyndrome
700 1 _avan der Vorm, E R
700 1 _aStreicher, R
700 1 _aKrone, W
700 1 _aSeemanova, E
700 1 _aDreyer, M
700 1 _aRüdiger, H W
700 1 _aRosipal, S R
700 1 _aMaassen, J A
773 0 _tDiabetologia
_gvol. 36
_gno. 11
_gp. 1168-74
856 4 0 _uhttps://doi.org/10.1007/BF00401062
_zAvailable from publisher's website
999 _c8269414
_d8269414