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Correspondence |

Hepatoerythropoietic Porphyria and Familial Porphyria Cutanea Tarda in Spanish Patients: G281E Mutation in the Uroporphyrinogen Decarboxylase Gene

Esteve Darwich, MD; Jordi To-Figueras, PhD; Celia Badenas, PhD; Carmen Herrero, MD
Arch Dermatol. 2010;146(11):1313-1314. doi:10.1001/archdermatol.2010.314.
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Elder  GH Porphyria cutanea tarda and related disorders. Kadish  KMSmith  KMGuilard  Reds.The Porphyrin Handbook: Medical Aspects of Porphyria.14 San Diego, CA Academic Press2003;67- 92
Ged  COzalla  DHerrero  C  et al.  Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002;138 (7) 957- 960
PubMed
Roberts  AGElder  GHDe Salamanca  REHerrero  CLecha  MMascaro  JM A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. J Invest Dermatol 1995;104 (4) 500- 502
PubMed Link to Article[[XSLOpenURL/10.1111/jid.1995.104.issue-4]]
Moran-Jimenez  MJGed  CRomana  M  et al.  Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996;58 (4) 712- 721
PubMed
de Verneuil  HGrandchamp  BBeaumont  CPicat  CNordmann  Y Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. Science 1986;234 (4777) 732- 734
PubMed Link to Article[[XSLOpenURL/10.1126/science.3775362]]
Méndez  MPoblete-Gutiérrez  PGarcíia-Bravo  M  et al.  Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. Br J Dermatol 2007;157 (3) 501- 507
PubMed Link to Article[[XSLOpenURL/10.1111/bjd.2007.157.issue-3]]
Badenas  CTo-Figueras  JPhillips  JDWarby  CAMuñoz  CHerrero  C Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet 2009;75 (4) 346- 353
PubMed Link to Article[[XSLOpenURL/10.1111/cge.2009.75.issue-4]]
Phillips  JDWhitby  FGStadtmueller  BMEdwards  CQHill  CPKushner  JP Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res 2007;149 (2) 85- 91
PubMed Link to Article[[XSLOpenURL/10.1016/j.trsl.2006.08.006]]
Armstrong  DKSharpe  PCChambers  CRWhatley  SDRoberts  AGElder  GH Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 2004;151 (4) 920- 923
PubMed Link to Article[[XSLOpenURL/10.1111/bjd.2004.151.issue-4]]
Meguro  KFujita  HIshida  N  et al.  Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994;102 (5) 681- 685
PubMed Link to Article[[XSLOpenURL/10.1111/jid.1994.102.issue-5]]

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