Fig. 1
From: Validation of Fanconi anemia complementation Group A assignment using molecular analysis
FANCA gene analysis scheme for the clinical molecular diagnosis of FA-A patients. FA patients were initially assigned to a specific complementation group by cytogenetic analysis of fibroblast cells. “Mutation” signifies pathogenic variant. dHPLC, denaturing high pressure liquid chromatography; MLPA, multiplex ligation-dependent probe amplification; SNP, single nucleotide polymorphism.
