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Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

Overview of attention for article published in Clinical Genetics, June 2005
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  • Good Attention Score compared to outputs of the same age (66th percentile)
  • Good Attention Score compared to outputs of the same age and source (66th percentile)

Mentioned by

wikipedia
1 Wikipedia page

Citations

dimensions_citation
23 Dimensions

Readers on

mendeley
29 Mendeley
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2 CiteULike
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Title
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
Published in
Clinical Genetics, June 2005
DOI 10.1111/j.1399-0004.2005.00471.x
Pubmed ID
Authors

E Siintola, M Topcu, A Kohlschütter, T Salonen, T Joensuu, A-K Anttonen, A-E Lehesjoki

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least seven subtypes of childhood-onset NCLs have been identified of which the late-infantile-onset forms (LINCLs) are genetically the most heterogeneous with four underlying genes identified. A variant form of LINCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity (CLN7). However, we recently showed that mutations in the CLN8 gene account for a subset of Turkish vLINCL. Toward identifying the CLN7 gene we here screened the known NCL loci for homozygosity in nine Turkish vLINCL families. These loci were excluded in seven families that are likely to represent the 'true' Turkish vLINCL. In two families, we identified two novel homozygous mutations in the CLN6 gene: an intronic base substitution (c.542+5G>T) affecting the splicing of the transcript and a nonsense mutation (c.663C>G) creating a stop codon at tyrosine 221. These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish vLINCL patients. The genetic background of the 'true' Turkish vLINCL, CLN7, remains to be defined.

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 14%
Student > Bachelor 4 14%
Researcher 4 14%
Other 3 10%
Student > Postgraduate 3 10%
Other 6 21%
Unknown 5 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 9 31%
Biochemistry, Genetics and Molecular Biology 8 28%
Medicine and Dentistry 7 24%
Computer Science 1 3%
Unknown 4 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 21 December 2007.
All research outputs
#3,547,602
of 12,342,721 outputs
Outputs from Clinical Genetics
#359
of 1,599 outputs
Outputs of similar age
#80,205
of 269,932 outputs
Outputs of similar age from Clinical Genetics
#8
of 24 outputs
Altmetric has tracked 12,342,721 research outputs across all sources so far. This one is in the 49th percentile – i.e., 49% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,599 research outputs from this source. They receive a mean Attention Score of 3.5. This one is in the 44th percentile – i.e., 44% of its peers scored the same or lower than it.
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 269,932 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 66% of its contemporaries.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.