A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency

Autor: Hooper, Amanda J., Robertson, Ken, Ng, Lydia, Kattampallil, Joseph S., Latchem, Donald, Willsher, Peter C., Thom, James, Baker, Ross I., Burnett, John R.
Zdroj: In Clinica Chimica Acta 2009 409(1):136-139
Databáze: ScienceDirect