PubMed (OMIM) for id: 5498

Year	Number of Results
1966	1
1967	1
1968	2
1978	3
1980	2
1984	1
1985	1
1986	1
1987	1
1988	1
1990	4
1991	3
1993	1
1995	3
1996	6
1997	2
1998	4
1999	2
2000	1
2001	3
2002	1
2003	1
2018	1
2019	1
2020	2
2021	1
2024	0

1

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Cho SY, Lau EY, Luk DC, Law CY, Lai CK, Lam CW. Cho SY, et al. Clin Chim Acta. 2021 Jan;512:117-120. doi: 10.1016/j.cca.2020.10.033. Epub 2020 Nov 4. Clin Chim Acta. 2021. PMID: 33159949

2

Two new mutations in the PPOX gene in a patient with variegate porphyria.

Collantes-Rodríguez C, de la Varga-Martínez R, Villegas-Romero I, Jiménez-Gallo D, Linares-Barrios M, Mora-López F. Collantes-Rodríguez C, et al. J Dtsch Dermatol Ges. 2020 Apr;18(4):381-383. doi: 10.1111/ddg.14079. Epub 2020 Apr 4. J Dtsch Dermatol Ges. 2020. PMID: 32247286 No abstract available.

3

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Borrero Corte MJ, Jara Rubio F, Morán Jiménez MJ, Díaz Díaz S, Castelbón Fernandez FJ, García Pastor I, Enríquez de Salamanca R, Méndez M. Borrero Corte MJ, et al. Eur J Med Genet. 2019 Dec;62(12):103589. doi: 10.1016/j.ejmg.2018.11.023. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476629

4

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

Wiman A, Harper P, Floderus Y. Wiman A, et al. Clin Genet. 2003 Aug;64(2):122-30. doi: 10.1034/j.1399-0004.2003.00116.x. Clin Genet. 2003. PMID: 12859407

5

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R. von und zu Fraunberg M, et al. Eur J Hum Genet. 2002 Oct;10(10):649-57. doi: 10.1038/sj.ejhg.5200860. Eur J Hum Genet. 2002. PMID: 12357337

6

Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.

Palmer RA, Elder GH, Barrett DF, Keohane SG. Palmer RA, et al. Br J Dermatol. 2001 Apr;144(4):866-9. doi: 10.1046/j.1365-2133.2001.04147.x. Br J Dermatol. 2001. PMID: 11298551

7

Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.

Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P. Kauppinen R, et al. J Invest Dermatol. 2001 Apr;116(4):610-3. doi: 10.1046/j.1523-1747.2001.01293.x. J Invest Dermatol. 2001. PMID: 11286631 Free article.

8

Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.

Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM. Frank J, et al. Hum Hered. 2001;51(3):160-8. doi: 10.1159/000053337. Hum Hered. 2001. PMID: 11173967

9

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN. Corrigall AV, et al. Mol Genet Metab. 2000 Apr;69(4):323-30. doi: 10.1006/mgme.2000.2975. Mol Genet Metab. 2000. PMID: 10870850

10

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.

Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, Elder GH, Deybach JC. Whatley SD, et al. Am J Hum Genet. 1999 Oct;65(4):984-94. doi: 10.1086/302586. Am J Hum Genet. 1999. PMID: 10486317 Free PMC article.

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