A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
about
Genetic and biochemical studies in Argentinean patients with variegate porphyriaVariegate 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 mutationMolecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South AfricaAcute Hepatic PorphyriaQuantitative Structural Insight into Human Variegate Porphyria DiseaseMutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyriaHomozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase geneMolecular characterization of homozygous variegate porphyriaCloning and expression of zebrafish genes encoding the heme synthesis enzymes uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO)The cutaneous porphyrias: a review. The British Photodermatology Group.Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.The little imitator--porphyria: a neuropsychiatric disorderIdentification of an FAD superfamily containing protoporphyrinogen oxidases, monoamine oxidases, and phytoene desaturase. Expression and characterization of phytoene desaturase of Myxococcus xanthus.Variegate porphyria in Western Australian Aboriginal patients.Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).Molecular phylogeny and intricate evolutionary history of the three isofunctional enzymes involved in the oxidation of protoporphyrinogen IX.Mechanistic insights into the substrate recognition of PPO: toward the rational design of effective inhibitorsFounder mutations among the Dutch.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services.Role of genetic testing in the management of patients with inherited porphyria and their families.Hepatocellular carcinoma in variegate porphyria: a case report and literature review.Retracing an old journey in variegate porphyria.Update review of the acute porphyrias.Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.montalcino, A zebrafish model for variegate porphyria.A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.Functional definition of the tobacco protoporphyrinogen IX oxidase substrate-binding siteCrystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.Acute hepatic porphyrias: Recommendations for evaluation and long-term management.Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
P2860
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P2860
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
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
name
A R59W mutation in human proto ...... icans with variegate porphyria
@ast
A R59W mutation in human proto ...... icans with variegate porphyria
@en
A R59W mutation in human proto ...... icans with variegate porphyria
@nl
type
label
A R59W mutation in human proto ...... icans with variegate porphyria
@ast
A R59W mutation in human proto ...... icans with variegate porphyria
@en
A R59W mutation in human proto ...... icans with variegate porphyria
@nl
prefLabel
A R59W mutation in human proto ...... icans with variegate porphyria
@ast
A R59W mutation in human proto ...... icans with variegate porphyria
@en
A R59W mutation in human proto ...... icans with variegate porphyria
@nl
P2093
P356
P1433
P1476
A R59W mutation in human proto ...... icans with variegate porphyria
@en
P2093
A G Roberts
A V Corrigall
D M Meissner
H A Dailey
P N Meissner
R E Kirsch
T A Dailey
P2888
P356
10.1038/NG0596-95
P407
P577
1996-05-01T00:00:00Z
P6179
1043944887