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Article

FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Mar 2009

Pilonetto D V, Pereira N F, Bitencourt M A, Magdalena N I R, Vieira E R, Veiga L B A, Cavalli I J, Ribeiro R C, Pasquini R

Abstract excerpt

Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore...

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Source

Identifiers

PMID: 19287902
DOI: 10.1590/s0100-879x2009000300004

Genes

FANCD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19287902-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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