Molecular genetics of porphyrias. - Wikidata - thesis-toulmin - TriplyDB

Molecular genetics of porphyrias.

Molecular genetics of porphyrias.

http://www.wikidata.org/entity/Q37782849

about

Peptide Lv augments L-type voltage-gated calcium channels through vascular endothelial growth factor receptor 2 (VEGFR2) signaling.The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.

P2860

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P2860

Molecular genetics of porphyrias.

http://www.wikidata.org/entity/Q37782849

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on December 1990

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Molecular genetics of porphyrias.

@en

Molecular genetics of porphyrias.

@nl

type

label

Molecular genetics of porphyrias.

@en

Molecular genetics of porphyrias.

@nl

prefLabel

Molecular genetics of porphyrias.

@en

Molecular genetics of porphyrias.

@nl

P1433

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P356

07853899009147275

P1433

Annals of Medicine

P1476

Molecular genetics of porphyrias.

@en

P2093

Delfau MH

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Deybach JC

http://www.w3.org/2001/XMLSchema#string

Grandchamp B

http://www.w3.org/2001/XMLSchema#string

Nordmann Y

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de Verneuil H

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P2860

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

Tissue-specific splicing mutation in acute intermittent porphyria.

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

P304

387-391

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scholarly article

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10.3109/07853899009147275

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6

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22

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P577

1990-12-01T00:00:00Z

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P698

2076270

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