Development of simple and effective PCR based assay to detect

Ali Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, Constantin Polychronakos, Aziz A Chentoufi

Open access · hybridAbstract read

In one paragraph

Article in Saudi journal of biological sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

0.1field-weighted citation impact, top 52% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 3 countries.

Ali Al-AsmariDepartment of Pediatrics, Medical Genetics Section, King Fahad Medical City, Riyadh, Saudi Arabia.

Abdul Ali Peer-ZadaPathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

Abdulwahed AlDehaimiPathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

Constantin PolychronakosEndocrine Genetics Laboratory, Research Institute of McGill University Health Centre, Child Health and Human Development Program, 1001 Decarie Boulevard, Montreal, QC H4A 3J1, Canada.

Aziz A ChentoufiPathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

King Fahd Medical City · SAMcGill University Health Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this study is to develop a rapid and effective method to screen for Saudi carriers of one of the most common propionic acidemia mutations (c.425G > A) and to study the functional impact of this mutation. Using allele-specific primers, we have developed a qPCR assay that clearly distinguishes heterozygotes from mutated and wild type homozygotes that overcome the dependence on labor-intensive gene sequencing. We show here that (

Indexed as

(c.425G>A) MutationCt, Cycle ThresholdPA, Propionic AcidemiaPCC, Propionyl-CoA CarboxylasePCRPCR, Polymerase Chain ReactionPropionic acidemiaPropionyl-CoA carboxylase activity

Identifiers

PMID36211601

DOI10.1016/j.sjbs.2022.103461

PMCPMC9535431

OpenAlexW4297373429

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.