Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.2001.04147.x/fullpdf
Reference16 articles.
1. Molecular characterization of homozygous variegate porphyria
2. Homozygous Variegate Porphyria: Two Similar Cases in Unrelated Families
3. Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
4. The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape Town
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2. A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review;Italian Journal of Pediatrics;2022-02-14
3. Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria;Clinica Chimica Acta;2021-01
4. Inherited Porphyrias;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021
5. Two new mutations in the PPOX gene in a patient with variegate porphyria;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-04
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