|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0008924,
umls-concept:C0008928,
umls-concept:C0020792,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0242611,
umls-concept:C1419771,
umls-concept:C1514562,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
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pubmed:issue |
6
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|
pubmed:dateCreated |
2001-7-18
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|
pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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|
pubmed:citationSubset |
D
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
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|
pubmed:issn |
0904-2512
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
30
|
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
381-3
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:11459326-Child,
pubmed-meshheading:11459326-Cleft Lip,
pubmed-meshheading:11459326-Cleidocranial Dysplasia,
pubmed-meshheading:11459326-Codon, Terminator,
pubmed-meshheading:11459326-Core Binding Factor Alpha 1 Subunit,
pubmed-meshheading:11459326-Cytosine,
pubmed-meshheading:11459326-Exons,
pubmed-meshheading:11459326-Glutamine,
pubmed-meshheading:11459326-Heterozygote,
pubmed-meshheading:11459326-Humans,
pubmed-meshheading:11459326-Male,
pubmed-meshheading:11459326-Neoplasm Proteins,
pubmed-meshheading:11459326-Point Mutation,
pubmed-meshheading:11459326-Thymine,
pubmed-meshheading:11459326-Transcription Factors
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pubmed:year |
2001
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pubmed:articleTitle |
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
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pubmed:affiliation |
Department of Oral and Maxillofacial Surgery 1, Okayama University Dental School, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
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