000 01708 a2200433 4500
005 20250514003907.0
264 0 _c20010920
008 200109s 0 0 eng d
022 _a0904-2512
024 7 _a10.1034/j.1600-0714.2001.300610.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aYamachika, E
245 0 0 _aIdentification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
_h[electronic resource]
260 _bJournal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
_cJul 2001
300 _a381-3 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aChild
650 0 4 _aCleft Lip
_xgenetics
650 0 4 _aCleidocranial Dysplasia
_xgenetics
650 0 4 _aCodon, Terminator
_xgenetics
650 0 4 _aCore Binding Factor Alpha 1 Subunit
650 0 4 _aCytosine
650 0 4 _aExons
_xgenetics
650 0 4 _aGlutamine
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aNeoplasm Proteins
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aThymine
650 0 4 _aTranscription Factors
_xgenetics
700 1 _aTsujigiwa, H
700 1 _aIshiwari, Y
700 1 _aMizukawa, N
700 1 _aNagai, N
700 1 _aSugahara, T
773 0 _tJournal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
_gvol. 30
_gno. 6
_gp. 381-3
856 4 0 _uhttps://doi.org/10.1034/j.1600-0714.2001.300610.x
_zAvailable from publisher's website
999 _c11387450
_d11387450