A David F Miraki-Moud N J Shaw M O Savage A J L Clark L A Metherell
10.1530/EJE-09-0583
Eur J Endocrinol
2010 Jan;162(1):37-42.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/19812236/
Laron Syndrome / diagnosis Laron Syndrome / genetics Receptors, Somatotropin / genetics
Laron Syndrome / diagnosis Laron Syndrome / genetics Receptors, Somatotropin / genetics Case Reports Comparative Study Research Support, Non-U.S. Gov't Cell Line Exons / genetics HeLa Cells Human Growth Hormone / genetics Human Growth Hormone / metabolism Humans Infant Introns / genetics Male Membrane Proteins / genetics Mutation / genetics Polypyrimidine Tract-Binding Protein / genetics Protein Structure, Tertiary / genetics RNA Splicing / genetics RNA, Messenger / genetics Signal Transduction / genetics Membrane Proteins RNA, Messenger Receptors, Somatotropin Human Growth Hormone Polypyrimidine Tract-Binding Protein
PMC2792980
19812236
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
2010