Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Identification of the mutations in COL7A1 in the patient and mother. Direct sequencing of the patient PCR product revealed G to A transition at position 4879 (A). As a result, the codon for Val (GUU) is changed to a codon for Ile (AUU). This mutation was confirmed by restriction enzyme, Alw NI (B).
