A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome

International Journal of Molecular Medicine

Volumn 20, Issue 1, 2007, Pages 85-89

  Brosch, Sibylle ^a   Baur, Manuela ^b   Blin, Nikolaus ^b   Reinert, Siegmar ^b   Pfister, Markus ^b  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Exon 4 mutation; Interferon regulatory factor 6; Molecular genetics; Stop codon; Truncated protein

Indexed keywords

INTERFERON REGULATORY FACTOR; IRF6 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; CLEFT LIP; CLEFT PALATE; DNA SEQUENCE; DOMINANT GENE; EXON; FAMILY; FEMALE; GENETICS; GERMANY; HETEROZYGOTE; HUMAN; MALE; PATHOLOGY; PEDIGREE; STOP CODON; SYNDROME;

CLEFT LIP; CLEFT PALATE; CODON, NONSENSE; CODON, TERMINATOR; EXONS; FAMILY; FEMALE; GENES, DOMINANT; GERMANY; HETEROZYGOTE; HUMANS; INTERFERON REGULATORY FACTORS; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 34548073164     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.20.1.85     Document Type: Article

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