Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
about
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.Identifying modifier genes of monogenic disease: strategies and difficulties.Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Liver disease in erythropoietic protoporphyria: insights and implications for management.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 ofUnravelling the genetic basis of variable clinical expression in neurofibromatosis 1.Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.Detection and impact of rare regulatory variants in human disease.Genetic modifiers and oligogenic inheritance.Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatasesMutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
P2860
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P2860
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Modulation of the phenotype in ...... normal ferrochelatase allele.
@ast
Modulation of the phenotype in ...... normal ferrochelatase allele.
@en
type
label
Modulation of the phenotype in ...... normal ferrochelatase allele.
@ast
Modulation of the phenotype in ...... normal ferrochelatase allele.
@en
prefLabel
Modulation of the phenotype in ...... normal ferrochelatase allele.
@ast
Modulation of the phenotype in ...... normal ferrochelatase allele.
@en
P2093
P2860
P1476
Modulation of the phenotype in ...... normal ferrochelatase allele.
@en
P2093
Beaumont C
Da Silva V
Deybach JC
Grandchamp B
Nordmann Y
P2860
P304
P407
P577
1996-02-01T00:00:00Z