Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

被引：112

作者：

Castoldi, Elisabetta ^{[1
]}

Collins, Peter W. ^{[2
]}

Williamson, Patrick L. ^{[3
]}

Bevers, Edouard M. ^{[1
]}

机构：

[1] Maastricht Univ, Dept Biochem, NL-6200 MD Maastricht, Netherlands

[2] Cardiff Univ, Sch Med, Arthur Bloom Haemophilia Ctr, Univ Wales Hosp, Cardiff CF4 4XW, S Glam, Wales

[3] Amherst Coll, Dept Biol, Amherst, MA 01002 USA

来源：

关键词：

D O I：

10.1182/blood-2011-01-332502

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：4399 / 4400

页数：2

共 4 条

[1] Phospholipid scramblase: An update [J].

Bevers, Edouard M. ;

Williamson, Patrick L. .

FEBS LETTERS, 2010, 584 (13) :2724-2730

[2]

Katoh M, 2004, INT J ONCOL, V24, P1345

Munnix, ICA ;

Harmsma, M ;

Giddings, JC ;

Collins, PW ;

Feijge, MAH ;

Comfurius, P ;

Heemskerk, JWM ;

Bevers, EM .

[4] Calcium-dependent phospholipid scrambling by TMEM16F [J].

Suzuki, Jun ;

Umeda, Masato ;

Sims, Peter J. ;

Nagata, Shigekazu .