Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1533-1538

  Gladwin, Amanda J ^a   Dixon, Jill ^a   Loftus, Stacie K ^b   Edwards, Sara ^a   Wasmuth, John J ^b   Hennekam, Raoul C M ^c   Dixon, Michael J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLEFT PALATE; CONDUCTION DEAFNESS; CONTROLLED STUDY; DELETION MUTANT; EXON; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; INTRON; MALE; MANDIBULOFACIAL DYSOSTOSIS; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; STOP CODON;

EID: 0029794933     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1533     Document Type: Article

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