Fig. 2
From: Validation of Fanconi anemia complementation Group A assignment using molecular analysis
FANCA gene structure and distribution of mutations. Schematic representation of FANCA gene structure with the relevant exon number shown (shaded boxes). Location of mutations, excluding gross deletions, reported in this study is shown above the diagram, whereas those for gross deletions are shown below the diagram. Identical mutations are indicated by symbols lining up vertically. Gaps between exons are indicated by “//.” Schematic is not drawn to scale. •, novel point mutation; ○, known point mutation; □, known small deletion; ▿, known insertion; SYMBOL, known gross deletion; SYMBOL, novel exon skipping; SYMBOL, novel gross duplication.
