A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

• 作者D. Macaya; S.H. Katsanis; T.W. Hefferon; S. Audlin; N.J. Mendelsohn; J. Roggenbuck; G.R. Cutting
• 期第8期
• 印刷ISSN1552-4825
• 电子ISSN1552-4833
• 文件大小139.05KB
• 发表时间2009
• DOI10.1002/ajmg.a.32834
• 页码1624-1627