Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
about
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.Variegate 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 mutationAn update of clinical management of acute intermittent porphyriaMolecular aspects of the inherited porphyriasSystematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.Molecular characterization of homozygous variegate porphyriaActivity and immunohistochemical localization of porphobilinogen deaminase in rat tissuesSystematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation updateSeven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).Acute intermittent porphyria in Argentina: an update.Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).Clinical manifestations and diagnostic challenges in acute porphyrias.Role of genetic testing in the management of patients with inherited porphyria and their families.Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report
P2860
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P2860
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Molecular epidemiology and dia ...... acute intermittent porphyria.
@ast
Molecular epidemiology and dia ...... acute intermittent porphyria.
@en
type
label
Molecular epidemiology and dia ...... acute intermittent porphyria.
@ast
Molecular epidemiology and dia ...... acute intermittent porphyria.
@en
prefLabel
Molecular epidemiology and dia ...... acute intermittent porphyria.
@ast
Molecular epidemiology and dia ...... acute intermittent porphyria.
@en
P2093
P2860
P356
P1476
Molecular epidemiology and dia ...... acute intermittent porphyria.
@en
P2093
Da Silva V
Deybach JC
Grandchamp B
Nordmann Y
Robreau AM
P2860
P304
P356
10.1086/515455
P407
P577
1997-06-01T00:00:00Z