2.1.4 Sequencing of PCR products
PCR products were sent to Biotechnology (Shanghai) Co., Ltd. for
sequencing. Compared with the PAH genomic DNA sequence (GI: 209364518)
in GenBank, the naming of mutations followed the principles of the PAH
database (http://www.pahdb.mcgill.ca/). Novel mutations were identified
by referring to the Human Gene Mutation Database (http://www.hgmd.org)
and related literature. A mutation was considered to be new after
screening the exons of 50 unrelated individuals to exclude it as a
polymorphic site.