Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

✍ Scribed by Ostergaard, Pia (author);Simpson, Michael A. (author);Brice, Glen (author);Mansour, Sahar (author);Connell, Fiona C. (author);Onoufriadis, Alexandros (author);Child, Anne H. (author);Hwang, Jae (author);Kalidas, Kamini (author);Mortimer, Peter S. (author);Trembath, Richard (author);Jeffery, Steve (author)

• Book ID: 125471556
• Publisher: BMJ Publishing Group
• Year: 2011
• Tongue: English
• Weight: 106 KB
• Volume: 48
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmg.2010.085563