title: 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.
authors.forename: M P
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: R
authors.initials: R
authors.lastname: de Franchis
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
mesh_terms: 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*
chemical_list: D003541:Cystathionine beta-Synthase