Lin, Yingbo

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