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The British Journal of Dermatology|August 23, 2007
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family membersL Berroeta, I Man, D R Goudie, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|August 7, 2009
The molecular genetics of erythropoietic protoporphyriaG H Elder, L Gouya, S D Whatley, et al.
Human Genetics|November 9, 2000
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS geneS D Whatley, A G Roberts, D H Llewellyn, et al.
Hepatology (Baltimore, Md.)|January 1, 1997
The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tardaA G Roberts, S D Whatley, S Nicklin, et al.
The British Journal of Dermatology|January 29, 2010
Molecular epidemiology of erythropoietic protoporphyria in the U.KS D Whatley, N G Mason, S A Holme, et al.
The Journal of Investigative Dermatology|March 12, 2002
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cellsC Aplin, S D Whatley, P Thompson, et al.
The British Journal of Dermatology|October 20, 2004
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion patternD K B Armstrong, P C Sharpe, C R Chambers, et al.
Journal of Medical Genetics|May 1, 1996
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3D H Llewellyn, G A Scobie, A J Urquhart, et al.
American Journal of Human Genetics|April 20, 2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaJ Lamoril, H Puy, S D Whatley, et al.
Human Molecular Genetics|December 1, 1995
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23A G Roberts, S D Whatley, J Daniels, et al.
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