Literature for inhibitor I04.024: C1 inhibitor

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2020
1. Ponard,D., Gaboriaud,C., Charignon,D., Ghannam,A., Wagenaar-Bos,I.G.A., Roem,D., Lopez-Lera,A., Lopez-Trascasa,M., Tosi,M. and Drouet,C.
   SERPING1 mutation update: mutation spectrum and C1 inhibitor phenotypes
   Hum Mutat41, 38-57. PubMed  Europe PubMed DOI  M
2019
2. Wong,W.Y., Wong,H., Au,E. and Chan,E.
   Identification and mapping of a 2,009-bp DNA deletion in SERPING1 of a hereditary angioedema patient
   Case Rep Genet2019, 7052062-7052062. PubMed  Europe PubMed DOI  M
2018
3. Caccia,S., Suffritti,C., Carzaniga,T., Berardelli,R., Berra,S., Martorana,V., Fra,A., Drouet,C. and Cicardi,M.
   Intermittent C1-inhibitor deficiency associated with recessive inheritance: functional and structural insight
   Sci Rep8, 977-977. PubMed  Europe PubMed DOI  M
2010
4. Gibson,J., Cree,A., Collins,A., Lotery,A. and Ennis,S.
   Determination of a gene and environment risk model for age-related macular degeneration
   Br J Ophthalmol94, 1382-1387. PubMed  Europe PubMed DOI  M
2007
5. Beinrohr,L., Harmat,V., Dobo,J., Lorincz,Z., Gal,P. and Zavodszky,P.
   C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease
   J Biol Chem282, 21100-21109. PubMed  Europe PubMed DOI  E  M  S