Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height. [electronic resource]
- European journal of endocrinology Aug 2018
- 85-95 p. digital
Publication Type: Case Reports; Journal Article
1479-683X
10.1530/EJE-18-0176 doi
Adult Amino Acid Substitution Animals Body Height Cell Line Cell Proliferation Down-Regulation Gene Expression Regulation, Developmental Green Fluorescent Proteins--chemistry Growth Disorders--blood Heterozygote Humans Insulin-Like Growth Factor I--analysis Male Mice, Knockout Pedigree Point Mutation RNA, Messenger--chemistry Receptor, IGF Type 1--chemistry Receptors, Androgen--genetics Recombinant Fusion Proteins--metabolism Sequence Analysis, RNA Severity of Illness Index