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5:4478 doi: 10.1038/ncomms5478 (2014)

As only one of two glycolytic enzymes that generates ATP, homozygous or compound heterozygous loss-of-function mutations in the PKLR gene, which encodes erythrocyte PK, result in erythrocyte ATP shortage

Regulation of ATP production by mitochondrial Ca(2+) Cell Calcium

Research has indicated an association between heterozygous FH mutations and uterine fibroids, hereditary leiomyomatosis, and papillary renal cell cancer [16]

Abstract:

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