Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.
Johnson
C A
CA
Densen
P
P
Hurford
R K
RK
Colten
H R
HR
Wetsel
R A
RA
D001483:Base Sequence; D003175:Complement C2 / Q000235:genetics*; D004247:DNA / Q000737:chemistry*; D006801:Humans; D008969:Molecular Sequence Data
D003175:Complement C2; D004247:DNA