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Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip
Author(s) -
Yamachika E.,
Tsujigiwa H.,
Ishiwari Y.,
Mizukawa N.,
Nagai N.,
Sugahara T.
Publication year - 2001
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1034/j.1600-0714.2001.300610.x
Subject(s) - cleidocranial dysplasia , exon , mutation , genetics , stop codon , transition (genetics) , dysplasia , biology , medicine , amino acid , anatomy , gene , supernumerary
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.