Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

被引：23

作者：

Venugopal, Parvathy ^{[1
,2
,3
]}

Moore, Sarah ^{[1
]}

Lawrence, David M. ^{[3
,4
]}

George, Amee J. ^{[5
,6
,7
]}

Hannan, Ross D. ^{[5
,6
,7
,8
,9
,10
]}

Bray, Sarah C. E. ^{[2
,11
]}

To, Luen Bik ^{[11
,12
]}

D'Andrea, Richard J. ^{[2
,12
,13
]}

Feng, Jinghua ^{[4
,13
]}

Tirimacco, Amanda ^{[1
]}

Yeoman, Alexandra L. ^{[1
]}

Young, Chun Chun ^{[1
]}

Fine, Miriam ^{[14
]}

Schreiber, Andreas W. ^{[13
]}

Hahn, Christopher N. ^{[2
,11
,13
]}

Barnett, Christopher ^{[11
,14
]}

Saxon, Ben ^{[11
,15
]}

Scott, Hamish S. ^{[1
,2
,3
,11
,13
]}

机构：

[1] SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA, Australia

[2] SA Pathol, Ctr Canc Biol, Adelaide, SA, Australia

[3] Univ Adelaide, Sch Biol Sci, Adelaide, SA 5005, Australia

[4] SA Pathol, Ctr Canc Biol, Australian Canc Res Fdn Canc Genom Facil, Adelaide, SA, Australia

[5] Australian Natl Univ, John Curtin Sch Med Res, ACRF Dept Canc Biol & Therapeut, Acton, ACT, Australia

[6] Peter MacCallum Canc Ctr, Oncogen Signalling & Growth Control Program, East Melbourne, Vic, Australia

[7] Univ Queensland, Sch Biomed Sci, St Lucia, Qld, Australia

[8] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic, Australia

[9] Univ Melbourne, Dept Biochem & Mol Biol, Parkville, Vic, Australia

[10] Monash Univ, Dept Biochem & Mol Biol, Clayton, Vic, Australia

[11] Univ Adelaide, Sch Med, Adelaide, SA, Australia

[12] SA Pathol, Div Haematol, Adelaide, SA, Australia

[13] Univ South Australia, Sch Pharm & Med Sci, Div Hlth Sci, Adelaide, SA, Australia

[14] Womens & Childrens Hosp, SA Pathol, South Australian Clin Genet Serv, Adelaide, SA, Australia

[15] Womens & Childrens Hosp, SA Pathol, Dept Haematol, Adelaide, SA, Australia

来源：

HAEMATOLOGICA | 2017年 / 102卷 / 12期

基金：

英国医学研究理事会;

关键词：

DISORDERS; MOSAICISM; GENE;

D O I：

10.3324/haematol.2017.166678

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：506 / 509

页数：4

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