Nicola Mason

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

Ruwani Katugampola, Michael N. Badminton, A.Y. Finlay et al. · British Journal of Dermatology · 2012 · 93 citations

Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene

Sharon D. Whatley, Nicola Mason, Jacqueline Woolf et al. · Clinical Chemistry · 2009 · 85 citations · Full text

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Sharon D. Whatley, Nicola Mason, S.A. Holme et al. · British Journal of Dermatology · 2010 · 63 citations

Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria

Sharon D. Whatley, Nicola Mason, S. Alexander Holme et al. · Journal of Investigative Dermatology · 2007 · 36 citations · Full text

Biology, Genetic Analysis, Genome Study +12

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study

Liz Gill, Sue Burrell, John Chamberlayne et al. · Orphanet Journal of Rare Diseases · 2021 · 14 citations · Full text