Molecular epidemiology of erythropoietic protoporphyria in the U.K.
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Advances in the management of erythropoietic protoporphyria - role of afamelanotideThe incidence of inherited porphyrias in Europe.X-linked dominant protoporphyria: a new porphyria.Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence ofAntisense oligonucleotide-based therapy in human erythropoietic protoporphyria.Role of genetic testing in the management of patients with inherited porphyria and their families.Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria.Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.An overview of the cutaneous porphyrias.Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
P2860
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P2860
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
description
2010 nî lūn-bûn
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2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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2010年學術文章
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name
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@en
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@nl
type
label
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@en
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@nl
prefLabel
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@en
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@nl
P2093
P1476
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
@en
P2093
A V Anstey
M N Badminton
S D Whatley
P304
P356
10.1111/J.1365-2133.2010.09631.X
P407
P577
2010-01-22T00:00:00Z