Evidence map›Paper›PMID 25400353›Full record

ArticleIndian journal of human genetics2014

First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis.

Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi Peyman

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In one paragraph

Article in Indian journal of human genetics, 2014. 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
–field-weighted citation impact, top 87% 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

4 authors at 2 institutions in 1 country.

Abbas SahamiDepartment of Medical Genetic and Embryology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Nourkhoda SadeghifardDepartment of Microbiology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran ; Clinical Microbiology Research Center, Ilam University of Medical Sciences, Ilam, Iran.
Alireza MonsefDepartment of Pathology, Hamadan University of Medical Sciences, Hamadan, Iran.
Hadi PeymanResearch Center for Prevention of Psychosocial Injuries, Ilam University of Medical Sciences, Ilam, Iran.
Hamedan University of Medical Sciences · IRIlam University · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient's sweat was 130-135 mmol/L and 125-128 mmol/L, respectively. The exon 10 mutation analysis of a CF patient was performed. CFTR mutation analysis revealed the identification of 2 mutations in patient, the mutations were p.F508del (ΔF508) and c. 1499G>C (cd500), respectively. The mutation c. 1499G>C (cd500) were found for the first time in the world. Assessing this mutation in future study and genetic investigation is recommended.

Indexed as

c. 1499G>Ccystic fibrosiscystic fibrosis transmembrane conductance regulatordirect sequencingIranmutations

Identifiers

PMID25400353
PMCPMC4228576
OpenAlexW2043570464

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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.