Article
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
The Journal of investigative dermatology - 1 Sept 2004
Ged Cécile, Mégarbané Hala, Chouery Eliane, Lalanne Magalie, Mégarbané André, de Verneuil Hubert
Abstract excerpt
In a Palestinian family, four siblings were shown to express typical and severe congenital erythropoietic porphyria (CEP). A new mutation of the uroporphyrinogen III synthase (UROS) gene was evidenced by systematic sequencing of the UROS gene: the substitution of serine by proline at the amino acid residue 47 (S47P) was present at the homozygous state in the four patients. The mother was heterozygous, the father...
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