TY  - GEN
AU  - Thiel,Christian T
AU  - Knebel,Birgit
AU  - Knerr,Ina
AU  - Sticht,Heinrich
AU  - Müller-Wieland,D
AU  - Zenker,Martin
AU  - Reis,Andre
AU  - Dörr,Helmuth-Günther
AU  - Rauch,Anita
TI  - Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome
SN  - 1096-7206
PY  - 2008///0915
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Antigens, CD
KW  - genetics
KW  - Base Sequence
KW  - Cell Nucleus
KW  - metabolism
KW  - Craniofacial Abnormalities
KW  - complications
KW  - DNA Mutational Analysis
KW  - Female
KW  - Growth Disorders
KW  - Humans
KW  - Insulin
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - physiology
KW  - Protein Binding
KW  - Protein Subunits
KW  - Receptor, Insulin
KW  - Sequence Homology, Nucleic Acid
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2008.02.013
ER  -