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A novel MIPgene mutation associated with autosomal dominant congenital cataracts in a Chinese family

Overview of attention for article published in BMC Medical Genomics, January 2014
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Title
A novel MIPgene mutation associated with autosomal dominant congenital cataracts in a Chinese family
Published in
BMC Medical Genomics, January 2014
DOI 10.1186/1471-2350-15-6
Pubmed ID
Authors

Yibo Yu, Yinhui Yu, Peiqing Chen, Jinyu Li, Yanan Zhu, Yi Zhai, Ke Yao

Abstract

The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, several mutations in MIP (OMIM 154050) have been linked to hereditary cataracts in humans. However, more pathogenic mutations remain to be identified. In this study, we describe a four-generation Chinese family with a nonsense mutation in MIP associated with an autosomal dominant congenital cataract (ADCC), thus expanding the mutational spectrum of this gene.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 21%
Student > Bachelor 2 14%
Student > Master 2 14%
Student > Ph. D. Student 2 14%
Student > Doctoral Student 1 7%
Other 3 21%
Unknown 1 7%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Biochemistry, Genetics and Molecular Biology 3 21%
Agricultural and Biological Sciences 2 14%
Business, Management and Accounting 1 7%
Unknown 2 14%
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 11 January 2014.
All research outputs
#20,656,161
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#242,510
of 318,831 outputs
Outputs of similar age from BMC Medical Genomics
#23
of 30 outputs
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