| Title |
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency
|
|---|---|
| Published in |
Human Genetics, February 2014
|
| DOI | 10.1007/s004390050749 |
| Pubmed ID | |
| Authors |
R. Kira, Kenji Ihara, Hidetoshi Takada, Kenjiro Gondo, Toshiro Hara |
| Abstract |
Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan but is rare in other countries. We studied the molecular basis of C9 deficiency in four Japanese C9-deficient patients who had suffered from meningococcal meningitis. Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution (CGA-->TGA) at codon 95 in exon 4 in the four C9-deficient individuals. An allele-specific polymerase chain reaction system designed to detect exclusively only one of the normal and mutant alleles indicated that all the four patients were homozygous for the mutation in exon 4 and that the parents of patient 2 were heterozygous. The common mutation at codon 95 in exon 4 might be responsible for most Japanese C9 deficiency. |
Mendeley readers
The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 9% |
| Unknown | 10 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 27% |
| Student > Master | 2 | 18% |
| Student > Doctoral Student | 1 | 9% |
| Student > Ph. D. Student | 1 | 9% |
| Student > Postgraduate | 1 | 9% |
| Other | 0 | 0% |
| Unknown | 3 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 5 | 45% |
| Medicine and Dentistry | 2 | 18% |
| Unknown | 4 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 06 April 2021.
All research outputs
#4,696,396
of 22,787,797 outputs
Outputs from Human Genetics
#467
of 2,953 outputs
Outputs of similar age
#63,936
of 336,637 outputs
Outputs of similar age from Human Genetics
#9
of 44 outputs
Altmetric has tracked 22,787,797 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,953 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has done well, scoring higher than 76% of its peers.
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 336,637 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 79% of its contemporaries.
We're also able to compare this research output to 44 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 72% of its contemporaries.