Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.
Simhadri VL, Hamasaki-Katagiri N, Lin BC, Hunt R, Jha S, Tseng SC, Wu A, Bentley AA, Zichel R, Lu Q, Zhu L, Freedberg DI, Monroe DM, Sauna ZE, Peters R, Komar AA, Kimchi-Sarfaty C.
Simhadri VL, et al. Among authors: bentley aa.
J Med Genet. 2017 May;54(5):338-345. doi: 10.1136/jmedgenet-2016-104072. Epub 2016 Dec 22.
J Med Genet. 2017.
PMID: 28007939
Free PMC article.