Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height. [electronic resource]
Producer: 20180730Description: 85-95 p. digitalISSN:- 1479-683X
- 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
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Publication Type: Case Reports; Journal Article
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