TY  - GEN
AU  - Yamachika,E
AU  - Tsujigiwa,H
AU  - Ishiwari,Y
AU  - Mizukawa,N
AU  - Nagai,N
AU  - Sugahara,T
TI  - Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip
SN  - 0904-2512
PY  - 2001///0920
KW  - Child
KW  - Cleft Lip
KW  - genetics
KW  - Cleidocranial Dysplasia
KW  - Codon, Terminator
KW  - Core Binding Factor Alpha 1 Subunit
KW  - Cytosine
KW  - Exons
KW  - Glutamine
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Neoplasm Proteins
KW  - Point Mutation
KW  - Thymine
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1034/j.1600-0714.2001.300610.x
ER  -