A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria

Nongnuch SirachainanDuangrurdee WattanasirichaigoonPim SuwannaratWerasak SasanakulAmpaiwan ChuansumritMahidol University2018-09-132018-09-132009-10-01Journal of Pediatric Hematology/Oncology. Vol.31, No.10 (2009), 768-77015363678107741142-s2.0-70349843628https://repository.li.mahidol.ac.th/handle/20.500.14594/27900The 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. © 2009 by Lippincott Williams & Wilkins.Mahidol UniversityMedicineA novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuriaArticleSCOPUS10.1097/MPH.0b013e3181a32bb8