A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.
Sperandeo
M P
MP
de Franchis
R
R
Andria
G
G
Sebastio
G
G
D000483:Alleles; D017398:Alternative Splicing; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D006712:Homocystinuria / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007558:Italy; D016254:Mutagenesis, Insertional / Q000235:genetics*
D003541:Cystathionine beta-Synthase