TY  - GEN
AU  - Müller-Wieland,D
AU  - van der Vorm,E R
AU  - Streicher,R
AU  - Krone,W
AU  - Seemanova,E
AU  - Dreyer,M
AU  - Rüdiger,H W
AU  - Rosipal,S R
AU  - Maassen,J A
TI  - An 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
SN  - 0012-186X
PY  - 1994///0201
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cells, Cultured
KW  - Child
KW  - DNA Primers
KW  - DNA Transposable Elements
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Insulin
KW  - Insulin Resistance
KW  - genetics
KW  - Kinetics
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phosphorylation
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Receptor, IGF Type 1
KW  - Receptor, Insulin
KW  - Skin
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF00401062
ER  -