Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
about
Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminasePorphobilinogen deaminase gene structure and molecular defectsMolecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase geneHeterogeneity of familial porphyria cutanea tarda.Tissue-specific splicing mutation in acute intermittent porphyria.Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in FinlandAcute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrateMolecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).Acute intermittent porphyria: pathophysiology and treatment.Acute intermittent porphyria presenting as epilepsyMolecular genetics of acute intermittent porphyria.Frequency of low erythrocyte porphobilinogen deaminase activity in Finland.
P2860
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P2860
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
description
1981 nî lūn-bûn
@nan
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
1981年论文
@zh
1981年论文
@zh-cn
name
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@en
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@nl
type
label
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@en
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@nl
prefLabel
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@en
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@nl
P1476
Normal erythrocyte uroporphyri ...... acute intermittent porphyria.
@en
P2093
Mustajoki P
P304
P356
10.7326/0003-4819-95-2-162
P407
P577
1981-08-01T00:00:00Z