F A Hol1, M P Geurds, C W Cremers, B C Hamel, E C Mariman. Show Affiliations » 1. Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Abstract
Entities: Disease Gene Mutation
Mesh： See more » Amino Acid SequenceAmino Acid SubstitutionBase SequenceBinding SitesCodon, Terminator/geneticsDNA/chemistryDNA/geneticsDNA Mutational AnalysisDNA-Binding Proteins/geneticsFamily HealthFatal OutcomeFemaleGlutamineHumansInfant, NewbornMethionineMutationPAX3 Transcription FactorPaired Box Transcription FactorsPoint MutationPolymorphism, Single-Stranded ConformationalTranscription FactorsValineWaardenburg Syndrome/geneticsWaardenburg Syndrome/pathology
Substances： See more » Codon, TerminatorDNA-Binding ProteinsPAX3 Transcription FactorPAX3 protein, humanPaired Box Transcription FactorsTranscription FactorsGlutaminePax3 protein, mouseDNAMethionineValine
Year: 1998 PMID： 9452070 DOI： 10.1002/humu.1380110149
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878