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Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
Hum Mol Genet. 2005 Oct 15;14(20):3089-98. doi: 10.1093/hmg/ddi342. Epub 2005 Sep 13.
Hum Mol Genet. 2005.
PMID: 16159891
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).
Lamoril J, Andant C, Gouya L, Malonova E, Grandchamp B, Martásek P, Deybac JC, Puy H.
Lamoril J, et al. Among authors: malonova e.
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):33-41.
Cell Mol Biol (Noisy-le-grand). 2002.
PMID: 11929045
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[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].
Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J.
Honzík T, et al. Among authors: malonova e.
Cas Lek Cesk. 2003;142(5):276-9.
Cas Lek Cesk. 2003.
PMID: 12920791
Czech.
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