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Article

A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.

Journal of pediatric hematology/oncology - 1 Oct 2009

Sirachainan Nongnuch, Wattanasirichaigoon Duangrurdee, Suwannarat Pim, Sasanakul Werasak, Chuansumrit Ampaiwan

Abstract excerpt

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...

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Identifiers

PMID: 20051935
DOI: 10.1097/MPH.0b013e3181a32bb8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20051935-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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