Associated Papers
Molecular analysis of 19 Spanish patients with mixed porphyrias.
Borrero Corte MJ et al.
European Journal of Medical Genetics, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A et al.
Journal of Inherited Metabolic Disease, 2011
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
Wiman A et al.
Journal of Human Genetics, 2002
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Lamoril J et al.
American Journal of Human Genetics, 2001
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.
Grandchamp B et al.
Journal of Bioenergetics and Biomembranes, 1995
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