The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 515-524

  Edwards, Sara J ^a   Gladwin, Amanda J ^a   Dixon, Michael J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 5Q; FEMALE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MANDIBULOFACIAL DYSOSTOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

CHROMOSOMES, HUMAN, PAIR 5; CODON, TERMINATOR; FEMALE; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING;

EID: 0031038030     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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