ArticleInternational journal of ophthalmology2019
Compound heterozygous mutations in
Article in International journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Pooled it
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- Geographical Variability inJournal of clinical medicine · 2022Review
- Article
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- Animal Model Contributions to Primary Congenital Glaucoma.Journal of ophthalmology · 2022Review
- Updates on the molecular genetics of primary congenital glaucoma (Review).Experimental and therapeutic medicine · 2020Review
- Primary congenital glaucoma: We are always on the way.Taiwan journal of ophthalmologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo identify the novel mutation alleles in the
methodsThe DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the
resultsTwo missense mutations, including A330F caused by c.988G>T&c.989C>T, and R390H caused by c.1169G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of
conclusionA novel A330F mutation is identified in the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.