RT Journal Article SR Electronic T1 Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 493 OP 495 DO 10.1136/jmg.39.7.493 VO 39 IS 7 A1 A Splendore A1 E W Jabs A1 M R Passos-Bueno YR 2002 UL http://jmg.bmj.com/content/39/7/493.abstract AB