High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

✍ Scribed by Alessandra Splendore; Elias O. Silva; Luís G. Alonso; Antônio Richieri-Costa; Nivaldo Alonso; Alberto Rosa; Gerson Carakushanky; Denise P. Cavalcanti; Décio Brunoni; Maria Rita Passos-Bueno

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 242 KB
• Volume: 16
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/1098-1004(200010)16:4<315::aid-humu4>3.0.co;2-h