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Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.

International journal of laboratory hematology - 1 Feb 2023

Pillonetto Daniela Vandresen, Piovezan Bruno Zagonel, Nichele Samantha, Lima Alberto Cardoso Martins, Pasquini Ricardo, Pereira Noemi Farah, Bonfim Carmem

Abstract excerpt

INTRODUCTION: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset. METHODS: A total of 116 patients were screened for nine mutations in FANCA, FANCC, FANCG. Those with no mutations were investigated by multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing for FANCA, FANCC,...

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PMID: 36333938
DOI: 10.1111/ijlh.13986

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