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Article

Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey.

Journal of pediatric hematology/oncology - 1 Apr 2014

Sarper Nazan, Orlando Christelle, Demirsoy Uğur, Gelen Sema A, Jochmans Kristin

Abstract excerpt

We present 2 cases of lower extremity deep venous thrombosis in 2 gypsy adolescents from related families. The patients had low antithrombin activity levels and inherited homozygous antithrombin deficiency was confirmed by molecular analysis (Leu131Phe mutation). One patient had a history of neph...

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Identifiers

PMID: 24072242
DOI: 10.1097/MPH.0000000000000033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24072242-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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