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.
Novel IVS10-1G>A mutation detected in CCM2 gene. The figure shows both wild-type (A) and mutated (B) electropherograms. The heterozygous substitution is indicated by the arrow. The novel heterozygous variant causes splicing alteration that occurs including also the first nucleotide of exon 10, as shown by frameshift observed in electropherogram of the coding sequence (C). The arrow indicates the point of the mutation.
