Novel Mutation in the 5′ Splice Site of Exon 4 of the TCOF1 Gene in the Patient with Treacher Collins Syndrome

American Journal of Medical Genetics

Volumn 123 A, Issue 2, 2003, Pages 169-171

  Marszalek, Bozena ^a   Wisniewski, Slawomir A ^a   Wojcicki, Piotr ^b   Kobus, Kazimierz ^b   Trzeciak, Wieslaw H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

Deletion; Mandibulofacial dysostosis; Treacle

Indexed keywords

ADENINE; ALANINE; CYTOSINE; GUANINE; PROTEIN; PROTEIN TREACLE; SERINE; THYMIDINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME DELETION; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRON; MALE; MANDIBULOFACIAL DYSOSTOSIS; MELTING POINT; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA TRANSLATION; TCOF1 GENE; TRANSLATION REGULATION;

BASE SEQUENCE; EXONS; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0345308368     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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