Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip

Eiki Yamachika, H. Tsujigiwa, Y. Ishiwari, Nobuyoshi Mizukawa, N. Nagai, T. Sugahara

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)381-383
Number of pages3
JournalJournal of Oral Pathology and Medicine
Volume30
Issue number6
DOIs
Publication statusPublished - 2001

Fingerprint

Cleidocranial Dysplasia
Terminator Codon
Cleft Lip
Mutation
Codon
Exons
Nucleotides
Amino Acids

Keywords

  • CBFA1
  • Cleidocranial dysplasia

ASJC Scopus subject areas

  • Cancer Research
  • Pathology and Forensic Medicine
  • Dentistry(all)

Cite this

Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. / Yamachika, Eiki; Tsujigiwa, H.; Ishiwari, Y.; Mizukawa, Nobuyoshi; Nagai, N.; Sugahara, T.

In: Journal of Oral Pathology and Medicine, Vol. 30, No. 6, 2001, p. 381-383.

Research output: Contribution to journalArticle

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AU - Nagai, N.

AU - Sugahara, T.

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