Avtor/Urednik		Writzl, Karin; Lovrečić, Luca; Vojtaššak, Jan; Peterlin, Borut
Naslov		SATB2 haploinsufficiency in patients with cleft palate
Tip		članek
Vir		Central European Journal of Medicine
Vol. in št.		Letnik 5, št. 3
Leto izdaje		2010
Obseg		str. 318-21
Jezik		eng
Abstrakt		De novo translocation interrupting the transcription unit of SATB2 gene has been associated with cleft palate only (CPO). We tested for the presence of the copy number of SATB2 gene in a sample of 92 patients with CPO using a quantitative real-time PCR approach. In one patient (1%, 95% CI = 0.2% - 6%), a 19 Mb de novo deletion encompassing the SATB2 gene was detected. These results suggest that SATB2 gene deletions do not play an important role in the etiology of cleft palate.
Deskriptorji		CLEFT PALATE TRANSLOCATION (GENETICS) TRANSCRIPTION, GENETIC CHROMOSOME DELETION POLYMERASE CHAIN REACTION HAPLOTYPES