Solc, Roman

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Jan 2017 - 30-36 p. digital

Publication Type: Journal Article

1873-3492

10.1016/j.cca.2016.11.007 doi


3' Untranslated Regions--genetics
5' Untranslated Regions--genetics
Adult
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
DNA-Binding Proteins--chemistry
Female
Haploinsufficiency
Humans
Langer-Giedion Syndrome--genetics
Male
Promoter Regions, Genetic--genetics
Repressor Proteins
Transcription Factors--chemistry
Young Adult