A Novel Splice Site Mutation in theSERPING1Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

✍ Scribed by Colobran, Roger; Pujol-Borrell, Ricardo; Hernández-González, Manuel; Guilarte, Mar

• Book ID: 125363042
• Publisher: Springer
• Year: 2014
• Tongue: English
• Weight: 538 KB
• Volume: 34
• Category: Article
• ISSN: 0271-9142
• DOI: 10.1007/s10875-014-0042-3