Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
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
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