A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells
about
Four novel PEPD alleles causing prolidase deficiencyCorrelated mutations: a hallmark of phenotypic amino acid substitutions.Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptideThe alpha(1D)-adrenergic receptor directly regulates arterial blood pressure via vasoconstriction.Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
P2860
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells
description
1990 nî lūn-bûn
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1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
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1990年の論文
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年學術文章
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name
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@ast
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@en
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@nl
type
label
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@ast
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@en
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@nl
prefLabel
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@ast
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@en
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@nl
P2093
P2860
P356
P1476
A single nucleotide change in ...... mutant enzyme in NIH 3T3 cells
@en
P2093
P2860
P356
10.1172/JCI114708
P407
P577
1990-07-01T00:00:00Z