Isovaleric acidemia
Apr. 30, 2024
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FH gene variant type relative frequency
Small deletions include all except whole exon deletions. Large deletions include whole exon to whole gene deletions. (Source: Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008;9:20. Creative Commons Attribution License.)