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Article

Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.

Blood cells, molecules & diseases - 1 Mar 2016

Shanbhag Sharda, Ghosh Kanjaksha, Shetty Shrimati

Abstract excerpt

Congenital factor XIII (FXIII) deficiency, the most under diagnosed disorder is caused mainly due to underlying defects in the catalytic A subunit of FXIII. More than 100 mutations throughout the factor XIII A gene (F13A1) have been identified so far. Present study aims to characterize the molecular basis of severe congenital FXIII deficiency in a large series of patients from different parts of India. F13A1...

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PMID: 26852661
DOI: 10.1016/j.bcmd.2016.01.002

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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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