Tissue-specific splicing mutation in acute intermittent porphyria.
about
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyriaTwo different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaA point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaHigh frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyriaMolecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseAn update of clinical management of acute intermittent porphyriaMolecular basis of hereditary C3 deficiency.A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.Gene regulationOsteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenPorphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Dual porphyrias revisited.Liver in disorders of porphyrin metabolism.Molecular genetics of porphyrias.Role of genetic testing in the management of patients with inherited porphyria and their families.Acute Intermittent Porphyria in children: A case report and review of the literature.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.Hereditary deficiency of C3 in animals and humans.Review: molecular pathogenesis of hepatic acute porphyrias.Gene-environmental interactions: Lessons from porphyria.Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
P2860
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P2860
Tissue-specific splicing mutation in acute intermittent porphyria.
description
1989 nî lūn-bûn
@nan
1989 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Tissue-specific splicing mutation in acute intermittent porphyria.
@ast
Tissue-specific splicing mutation in acute intermittent porphyria.
@en
type
label
Tissue-specific splicing mutation in acute intermittent porphyria.
@ast
Tissue-specific splicing mutation in acute intermittent porphyria.
@en
prefLabel
Tissue-specific splicing mutation in acute intermittent porphyria.
@ast
Tissue-specific splicing mutation in acute intermittent porphyria.
@en
P2093
P2860
P356
P1476
Tissue-specific splicing mutation in acute intermittent porphyria
@en
P2093
B Grandchamp
J H Wilson
K Te Velde
L Sandkuyl
M Goossens
V Mignotte
Y Nordmann
P2860
P304
P356
10.1073/PNAS.86.2.661
P407
P577
1989-01-01T00:00:00Z