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Article

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.

Human molecular genetics - 1 Aug 1995

Savoia A, Centra M, Ianzano L, de Cillis G P, Zelante L, Buchwald M

Abstract excerpt

Fanconi anaemia (FA) is an autosomal recessive disease characterised by progressive pancytopenia, chromosome instability and an increased risk of cancer. The Fanconi Anaemia Complementation Group C (FACC) gene is mutated in patients of complementation group C. Several different forms of FACC mRNA that share the same coding region have been isolated. At least two species result from the use of alternative exons at...

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Identifiers

PMID: 7581369
DOI: 10.1093/hmg/4.8.1321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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