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.
The c.612G>T mutation leads to aberrant splicing. DNA sequencing chromatogram showing two different HMBS cDNA transcripts from a patient heterozygous for the c.612G>T mutation (top panel). Diagram depicting the expected protein sequences from the wildtype and mutant transcripts (bottom panel). c.612 is underlined.
