Publication: A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
| dc.contributor.author | Nongnuch Sirachainan | en_US |
| dc.contributor.author | Duangrurdee Wattanasirichaigoon | en_US |
| dc.contributor.author | Pim Suwannarat | en_US |
| dc.contributor.author | Werasak Sasanakul | en_US |
| dc.contributor.author | Ampaiwan Chuansumrit | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.date.accessioned | 2018-09-13T06:53:11Z | |
| dc.date.available | 2018-09-13T06:53:11Z | |
| dc.date.issued | 2009-10-01 | en_US |
| dc.description.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. © 2009 by Lippincott Williams & Wilkins. | en_US |
| dc.identifier.citation | Journal of Pediatric Hematology/Oncology. Vol.31, No.10 (2009), 768-770 | en_US |
| dc.identifier.doi | 10.1097/MPH.0b013e3181a32bb8 | en_US |
| dc.identifier.issn | 15363678 | en_US |
| dc.identifier.issn | 10774114 | en_US |
| dc.identifier.other | 2-s2.0-70349843628 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/27900 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=70349843628&origin=inward | en_US |
| dc.subject | Medicine | en_US |
| dc.title | A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=70349843628&origin=inward | en_US |