Literature DB >> 8990017

Three novel mutations in the coproporphyrinogen oxidase gene.

J Lamoril1, J C Deybach, H Puy, B Grandchamp, Y Nordmann.   

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Year:  1997        PMID： 8990017     DOI： 10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Authors:  J Lamoril; H Puy; S D Whatley; C Martin; J R Woolf; V Da Silva; J C Deybach; G H Elder
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

Review 2.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

Review 3.  [Hepatic porphyrias and alcohol].

Authors:  M O Doss; A Kühnel; U Gross; I Sieg
Journal:  Med Klin (Munich)       Date:  1999-06-15
  3 in total

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