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  • Title: Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
    Author: Yamachika E, Tsujigiwa H, Ishiwari Y, Mizukawa N, Nagai N, Sugahara T.
    Journal: J Oral Pathol Med; 2001 Jul; 30(6):381-3. PubMed ID: 11459326.
    Abstract:
    We examined a patient with cleidocranial dysplasia (CCD) and cleft lip and found a new stop codon mutation in CBFA1. This mutation was a heterozygous C-to-T transition in exon 3 of CBFA1. This nucleotide change converts a CAA codon to a TAA (stop) codon at amino acid position Gln195 in the runt domain of CBFA1.
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