A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Human Mutation

Volumn 18, Issue 6, 2001, Pages 535-541

  Elanko, Navaratnam ^a   Sibbring, Julie S ^b   Metcalfe, Kay A ^c   Clayton Smith, Jill ^a   Donnai, Dian ^d   Temple, I Karen ^a   Wall, Steven A ^a   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

^d RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

bHLH; Craniosynostosis; Polyglycine; Saethre Chotzen syndrome; SCS; Triplet repeat; TWIST

Indexed keywords

GENE PRODUCT; GLYCINE; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOSYNOSTOSES; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PEPTIDES; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR; VARIATION (GENETICS);

EID: 0035213012     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1230     Document Type: Article

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