title: A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
abstract: The authors reported a 14-year-old boy who presented with multiple organs thrombosis and subluxation of lens. His diagnosis of homocystinuria was delayed owing to the unrecognition of the disease resulting in significant morbidity. The mutation analysis showed one novel mutation that can explain the high level of plasma homocysteine.
authors.affiliation: Department of Pediatrics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. rasrb@mahidol.ac.th
authors.forename: Nongnuch
authors.initials: N
authors.lastname: Sirachainan
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Pim
authors.initials: P
authors.lastname: Suwannarat
authors.forename: Werasak
authors.initials: W
authors.lastname: Sasanakul
authors.forename: Ampaiwan
authors.initials: A
authors.lastname: Chuansumrit
mesh_terms: D000293:Adolescent; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004252:DNA Mutational Analysis; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013785:Thailand; D013927:Thrombosis / Q000209:etiology
chemical_list: D003541:Cystathionine beta-Synthase