Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene
Whatley, Sharon D, Mason, Nicola G, Woolf, Jacqueline R, Newcombe, Robert G, Elder, George H, Badminton, Michael N
Published in Clinical chemistry (Baltimore, Md.) (01.07.2009)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2009)
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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, Jérôme, Puy, Hervé, Whatley, Sharon D., Martin, Caroline, Woolf, Jacqueline R., Da Silva, Vasco, Deybach, Jean-Charles, Elder, George H.
Published in American journal of human genetics (01.05.2001)
Published in American journal of human genetics (01.05.2001)
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