Pub. Date : 2017 Oct
PMID : 30046692
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A deeper intronic mutation (c.1154-14G>A), identified in three unrelated patients with traces of disulphide dimers of antithrombin in plasma, created a cryptic splicing site that might generate a variant with 4 additional in frame residues according to in silico predictions. | disulphide | serpin family C member 1 | Homo sapiens |