Study of the genotype–phenotype relationship in four cases of congenital erythropoietic porphyria-Reference-Cited by-同舟云学术

Study of the genotype–phenotype relationship in four cases of congenital erythropoietic porphyria

Published:2007-05 Issue:3 Volume:38 Page:242-246
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

To-Figueras Jordi,Badenas Celia,Mascaró José M,Madrigal Irene,Merino Ana,Bastida Pilar,Lecha Mario,Herrero Carmen

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference25 articles.

1. Congenital erythropoietic porphyria: advances in pathogenesis and treatment;Desnick;Br. J. Haematol.,2002

2. Congenital erythropoietic porphyria: dilemmas in present day management;Dawe;Clin. Exp. Dermatol.,2002

3. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, http://www.hgmd.cf.ac.uk/ac/index.php. Accessed November 19th, 2006.

4. Uroporhyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria;Solis;J. Clin. Invest.,2001

5. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the human uroporphyrinogen III synthase gene;Xu;J. Clin. Invest.,1995

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