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A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

Overview of attention for article published in BMC Medical Genomics, March 2012
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Title
A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report
Published in
BMC Medical Genomics, March 2012
DOI 10.1186/1471-2350-13-23
Pubmed ID
Authors

Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda

Abstract

Von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing the patient to a variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. VHL is caused by mutations of the VHL tumor suppressor gene on the short arm of chromosome 3, and clinical manifestations develop if both alleles are inactivated according to the two-hit hypothesis. VHL mutations are more frequent in the coding region and occur occasionally in the splicing region of the gene. Previously, we reported that the loss of heterozygosity (LOH) of the VHL gene is common in squamous cell carcinoma tissues of the tongue.

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X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 6%
Unknown 17 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 28%
Student > Master 4 22%
Student > Bachelor 2 11%
Other 2 11%
Student > Ph. D. Student 2 11%
Other 0 0%
Unknown 3 17%
Readers by discipline Count As %
Medicine and Dentistry 5 28%
Agricultural and Biological Sciences 4 22%
Nursing and Health Professions 2 11%
Biochemistry, Genetics and Molecular Biology 2 11%
Computer Science 1 6%
Other 1 6%
Unknown 3 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 March 2012.
All research outputs
#20,656,820
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#135,182
of 173,088 outputs
Outputs of similar age from BMC Medical Genomics
#19
of 23 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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