Evidence map›Paper›PMID 32067433›Full record

ArticleAnnals of laboratory medicine2020

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.

Jong Eun Park, Sun Ae Yun, Eun Youn Roh, Jong Hyun Yoon, Sue Shin, Chang Seok Ki

Open access · diamondAbstract read
In one paragraph

Article in Annals of laboratory medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

9 citing papers in PubMed, 15 citations in OpenAlex.

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  7. Spinal muscular atrophy carrier frequency in Saudi Arabia.Molecular genetics & genomic medicine · 2022
    Article
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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

6 authors at 4 institutions in 1 country.

Jong Eun ParkDepartment of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.ORCID https://orcid.org/0000-0001-9131-6518
Sun Ae YunCenter for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea.ORCID https://orcid.org/0000-0002-8104-3496
Eun Youn RohDepartment of Laboratory Medicine, Boramae Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-1787-7509
Jong Hyun YoonDepartment of Laboratory Medicine, Boramae Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-1252-4739
Sue ShinDepartment of Laboratory Medicine, Boramae Hospital, Seoul National University College of Medicine, Seoul, Korea. jeannie@snu.ac.kr.ORCID https://orcid.org/0000-0003-4791-8671
Chang Seok KiGC Genome, Yongin, Korea. changski.md@gmail.com.ORCID https://orcid.org/0000-0001-7679-8731
Seoul National University · KRGenome and Company (South Korea) · KRHanyang University Guri Hospital · KRSamsung Medical Center · KR

Funding

National Research Foundation of Korea NRF-2017M3C7A1025363National Research Foundation of Korea NRF-2017M3C7A1025366
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from an umbilical cord blood bank were tested for

Indexed as

Asian PeopleDNAGene DeletionHeterozygoteHumansMultiplex Polymerase Chain ReactionMuscular Atrophy, SpinalRepublic of KoreaSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinUmbilical CordDNASMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinCarrier frequencyKoreamultiplex ligation-dependent probe amplificationSpinal muscular atrophy

Identifiers

PMID32067433
PMCPMC7054693
OpenAlexW3008034237

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.