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Article

Fanconi anemia founder mutation in Macedonian patients.

Acta haematologica - 1 Jan 2014

Madjunkova Svetlana, Kocheva Svetlana A, Plaseska-Karanfilska Dijana

Abstract excerpt

BACKGROUND: Fanconi anemia (FA) is a rare autosomal recessive disorder clinically characterized by developmental abnormalities, progressive bone marrow failure (BMF) and profound cancer predisposition. Approximately 65% of all affected individuals have mutation in the FANCA (Fanconi anemia complementation group A) gene. The mutation spectrum of the FANCA gene is highly heterogeneous. FA-A is usually associated...

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Source

Identifiers

PMID: 24356203
DOI: 10.1159/000355191

Genes

FANCA
BMF

Provenance

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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