Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
about
Diagnosis and management of porphyriaStructure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyriaFour mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyriaMolecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.Acute intermittent porphyria in Argentina: an update.Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).Role of genetic testing in the management of patients with inherited porphyria and their families.Porphyrin and heme metabolism and the porphyrias.Update review of the acute porphyrias.Molecular genetics of disorders of haem biosynthesisThe three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.Acute hepatic porphyrias: Recommendations for evaluation and long-term management.Women's experience of suffering repeated severe attacks of acute intermittent porphyria.Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
P2860
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P2860
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Identification of the most com ...... h acute intermittent porphyria
@ast
Identification of the most com ...... h acute intermittent porphyria
@en
Identification of the most com ...... h acute intermittent porphyria
@nl
type
label
Identification of the most com ...... h acute intermittent porphyria
@ast
Identification of the most com ...... h acute intermittent porphyria
@en
Identification of the most com ...... h acute intermittent porphyria
@nl
prefLabel
Identification of the most com ...... h acute intermittent porphyria
@ast
Identification of the most com ...... h acute intermittent porphyria
@en
Identification of the most com ...... h acute intermittent porphyria
@nl
P2860
P356
P1476
Identification of the most com ...... h acute intermittent porphyria
@en
P2093
P2860
P304
P356
10.1073/PNAS.88.23.10912
P407
P577
1991-12-01T00:00:00Z