Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Sperandeo
M P
MP
Department of Pediatrics, Federico II University, Naples, Italy.
Panico
M
M
Pepe
A
A
Candito
M
M
de Franchis
R
R
Kraus
J P
JP
Andria
G
G
Sebastio
G
G
D001483:Base Sequence; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D005060:Europe; D005091:Exons; D006712:Homocystinuria / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
D003541:Cystathionine beta-Synthase