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; N. Mizukawa; N. Nagai; T. Sugahara

doi:10.1034/j.1600-0714.2001.300610.x

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, N. Mizukawa, N. Nagai, T. Sugahara

University Hospital

Research output: Contribution to journal › Article › peer-review

12 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 language	English
Pages (from-to)	381-383
Number of pages	3
Journal	Journal of Oral Pathology and Medicine
Volume	30
Issue number	6
DOIs	https://doi.org/10.1034/j.1600-0714.2001.300610.x
Publication status	Published - 2001

Keywords

CBFA1
Cleidocranial dysplasia

ASJC Scopus subject areas

Pathology and Forensic Medicine
Oral Surgery
Otorhinolaryngology
Cancer Research
Periodontics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1034/j.1600-0714.2001.300610.x

Cite this

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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",

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.",

keywords = "CBFA1, Cleidocranial dysplasia",

author = "Eiki Yamachika and H. Tsujigiwa and Y. Ishiwari and N. Mizukawa and N. Nagai and T. Sugahara",

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doi = "10.1034/j.1600-0714.2001.300610.x",

language = "English",

volume = "30",

pages = "381--383",

journal = "Journal of Oral Pathology and Medicine",

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TY - JOUR

T1 - Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip

AU - Yamachika, Eiki

AU - Tsujigiwa, H.

AU - Ishiwari, Y.

AU - Mizukawa, N.

AU - Nagai, N.

AU - Sugahara, T.

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

KW - CBFA1

KW - Cleidocranial dysplasia

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UR - http://www.scopus.com/inward/citedby.url?scp=0034934804&partnerID=8YFLogxK

U2 - 10.1034/j.1600-0714.2001.300610.x

DO - 10.1034/j.1600-0714.2001.300610.x

M3 - Article

C2 - 11459326

AN - SCOPUS:0034934804

SN - 0904-2512

VL - 30

SP - 381

EP - 383

JO - Journal of Oral Pathology and Medicine

JF - Journal of Oral Pathology and Medicine

IS - 6

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

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