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Mendeley readers
| Title |
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
|
|---|---|
| Published in |
World Journal of Gastroenterology, September 2018
|
| DOI | 10.3748/wjg.v24.i36.4208 |
| Pubmed ID | |
| Authors |
Kuerbanjiang Abuduxikuer, Jia-Yan Feng, Yi Lu, Xin-Bao Xie, Lian Chen, Jian-She Wang |
| Abstract |
Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase (MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant (c.2158C>T/p.Gln720Stop) together with a novel tri-nucleotide insertion (c.893_894insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene. |
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 % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 4 | 22% |
| Researcher | 3 | 17% |
| Other | 2 | 11% |
| Student > Ph. D. Student | 2 | 11% |
| Student > Doctoral Student | 1 | 6% |
| Other | 3 | 17% |
| Unknown | 3 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 44% |
| Biochemistry, Genetics and Molecular Biology | 4 | 22% |
| Immunology and Microbiology | 1 | 6% |
| Sports and Recreations | 1 | 6% |
| Earth and Planetary Sciences | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 3 | 17% |