TY - GEN AU - Solc,Roman AU - Klugerova,Michaela AU - Vcelak,Josef AU - Baxova,Alice AU - Kuklik,Miloslav AU - Vseticka,Jan AU - Beharka,Rastislav AU - Hirschfeldova,Katerina TI - Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization SN - 1873-3492 PY - 2017///0208 KW - 3' Untranslated Regions KW - genetics KW - 5' Untranslated Regions KW - Adult KW - Amino Acid Sequence KW - Base Sequence KW - Child KW - Child, Preschool KW - DNA Mutational Analysis KW - DNA-Binding Proteins KW - chemistry KW - Female KW - Haploinsufficiency KW - Humans KW - Langer-Giedion Syndrome KW - Male KW - Promoter Regions, Genetic KW - Repressor Proteins KW - Transcription Factors KW - Young Adult N1 - Publication Type: Journal Article UR - https://doi.org/10.1016/j.cca.2016.11.007 ER -