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

岡山大学病院

研究成果 › 査読

12 被引用数 (Scopus)

抄録

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.

本文言語	English
ページ（範囲）	381-383
ページ数	3
ジャーナル	Journal of Oral Pathology and Medicine
巻	30
号	6
DOI	https://doi.org/10.1034/j.1600-0714.2001.300610.x
出版ステータス	Published - 2001

ASJC Scopus subject areas

病理学および法医学
口腔外科
耳鼻咽喉科学
癌研究
歯周病学

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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10.1034/j.1600-0714.2001.300610.x

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引用スタイル

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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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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

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DO - 10.1034/j.1600-0714.2001.300610.x

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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

抄録

ASJC Scopus subject areas

UN SDG

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