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Article

A lethal phenotype associated with tissue plasminogen deficiency in humans.

Human genetics - 1 Oct 2016

Shamseldin Hanan E, Aldeeri Abdulrahman, Babay Zainab, Alsultan Abdulrahman, Hashem Mais, Alkuraya Fowzan S

Abstract excerpt

The role of plasminogen in preventing thrombosis requires activation by tissue plasminogen activator (t-PA) encoded by PLAT. While case-control associations have been pursued for common variants in PLAT, no disease-causing mutations have been reported. We describe a consanguineous family with two children who died shortly after birth due to complications related to severe hydranencephaly and diaphragmatic hernia....

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Source

Identifiers

PMID: 27417437
DOI: 10.1007/s00439-016-1711-5

Genes

PLAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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