Biallelic Mutations in PARP4 Are Linked to a Variant Form of Congenital Dyserythropoietic Anemia

被引：7

作者：

Bianchi, Paola ^{[1
]}

Fermo, Elisa ^{[1
]}

Eng, Jennifer C. ^{[2
,3
]}

Ulirsch, Jacob C. ^{[3
,4
]}

Vercellati, Cristina ^{[1
]}

Braidotti, Paola ^{[5
]}

Hildick-Smith, Gordon ^{[6
,7
]}

Satchwell, Timothy J. ^{[8
]}

Pellegrin, Stephanie ^{[8
]}

Zanella, Alberto ^{[1
]}

Barcellini, Wilma ^{[9
]}

Paw, Barry H. ^{[6
,7
]}

Toye, Ashley Mark ^{[8
,10
]}

Sankaran, Vijay G. ^{[3
,4
]}

机构：

[1] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Oncohematol Unit, Physiopathol Anemias Unit, Milan, Italy

[2] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Hematol Oncol, Boston, MA USA

[3] Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

[4] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

[5] S Paolo Hosp, Dept Pathol, Milan, Italy

[6] Harvard Univ, Sch Med, Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

[7] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Hematol, Boston, MA 02115 USA

[8] Univ Bristol, Sch Med Sci, Sch Biochem, Bristol BS8 1TD, Avon, England

[9] Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Milan, Italy

[10] NHSBT, Bristol Inst Transfus Sci, Filton, England

来源：

关键词：

D O I：

10.1182/blood.V126.23.3333.3333

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：3