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Article

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Human mutation - 1 Oct 2003

Savino Maria, Borriello Adriana, D'Apolito Maria, Criscuolo Maria, Del Vecchio Maria, Bianco Anna Monica, Di Perna Michele, Calzone Rita, Nobili Bruno, Zatterale Adriana, Zelante Leopoldo, Joenje Hans, Della Ragione Fulvio, Savoia Anna

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive disorder characterized by genomic instability, bone marrow failure, congenital malformations, and cancer predisposition. FA is a genetically heterogeneous disease with at least seven genes so far identified. The role of FA proteins is unknown although...

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Source

Identifiers

PMID: 12955722
DOI: 10.1002/humu.9180

Genes

FANCA
FANCD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12955722-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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