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Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China

Overview of attention for article published in Genetics and Molecular Biology, January 2012
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  • Above-average Attention Score compared to outputs of the same age (56th percentile)

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2 tweeters

Citations

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22 Dimensions

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24 Mendeley
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Title
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
Published in
Genetics and Molecular Biology, January 2012
DOI 10.1590/s1415-47572012005000069
Pubmed ID
Authors

Yu, Liang

Abstract

The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%), followed by Ivs7 + 2 T > A (5.1%) and T278I (2.5%). G247V, R252Q, L255S, R261Q and E280K accounted for 0.8% while Y356X and V399V accounted for 5.9% and 5.1%, respectively, in exon 11. R413P and A434D accounted for 5.9% and 2.5%, respectively, in exon 12. Seventy-two variant alleles accounted for the 16 mutations observed here. The mutation characteristics and distributions demonstrated that EX6-96A > G and R243Q were the hot regions for mutations in the PAH gene in Shanxi patients with PKU.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hong Kong 1 4%
United States 1 4%
Unknown 22 92%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 8 33%
Student > Master 4 17%
Researcher 3 13%
Student > Ph. D. Student 3 13%
Other 2 8%
Other 3 13%
Unknown 1 4%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 29%
Medicine and Dentistry 5 21%
Agricultural and Biological Sciences 5 21%
Chemistry 2 8%
Psychology 1 4%
Other 3 13%
Unknown 1 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 19 December 2012.
All research outputs
#2,146,636
of 4,655,094 outputs
Outputs from Genetics and Molecular Biology
#1
of 1 outputs
Outputs of similar age
#113,886
of 281,813 outputs
Outputs of similar age from Genetics and Molecular Biology
#1
of 2 outputs
Altmetric has tracked 4,655,094 research outputs across all sources so far. This one has received more attention than most of these and is in the 51st percentile.
So far Altmetric has tracked 1 research outputs from this source. They receive a mean Attention Score of 0.0. This one scored the same or higher as 0 of them.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 281,813 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 56% of its contemporaries.
We're also able to compare this research output to 2 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them