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

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

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...

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Main Authors: Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Werasak Sasanakul, Ampaiwan Chuansumrit
Other Authors: Mahidol University
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/27900
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Institution: Mahidol University
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spelling th-mahidol.279002018-09-13T13:53:11Z A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria Nongnuch Sirachainan Duangrurdee Wattanasirichaigoon Pim Suwannarat Werasak Sasanakul Ampaiwan Chuansumrit Mahidol University Medicine 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. 2018-09-13T06:53:11Z 2018-09-13T06:53:11Z 2009-10-01 Article Journal of Pediatric Hematology/Oncology. Vol.31, No.10 (2009), 768-770 10.1097/MPH.0b013e3181a32bb8 15363678 10774114 2-s2.0-70349843628 https://repository.li.mahidol.ac.th/handle/123456789/27900 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=70349843628&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
Nongnuch Sirachainan
Duangrurdee Wattanasirichaigoon
Pim Suwannarat
Werasak Sasanakul
Ampaiwan Chuansumrit
A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
description 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.
author2 Mahidol University
author_facet Mahidol University
Nongnuch Sirachainan
Duangrurdee Wattanasirichaigoon
Pim Suwannarat
Werasak Sasanakul
Ampaiwan Chuansumrit
format Article
author Nongnuch Sirachainan
Duangrurdee Wattanasirichaigoon
Pim Suwannarat
Werasak Sasanakul
Ampaiwan Chuansumrit
author_sort Nongnuch Sirachainan
title A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
title_short A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
title_full A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
title_fullStr A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
title_full_unstemmed A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
title_sort novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/27900
_version_ 1763492857059999744

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