Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

被引：104

作者：

Dhanraj, Santhosh ^{[1
]}

Matveev, Anna ^{[1
,2
]}

Li, Hongbing ^{[1
,2
]}

Lauhasurayotin, Supanun ^{[1
,3
]}

Jardine, Lawrence ^{[4
]}

Cada, Michaela ^{[3
]}

Zlateska, Bozana ^{[1
]}

Tailor, Chetankumar S. ^{[1
]}

Zhou, Joseph ^{[1
]}

Mendoza-Londono, Roberto ^{[5
]}

Vincent, Ajoy ^{[6
]}

Durie, Peter R. ^{[7
]}

Scherer, Stephen W. ^{[1
,8
,9
]}

Rommens, Johanna M. ^{[1
,9
]}

Heon, Elise ^{[1
,6
]}

Dror, Yigal ^{[1
,2
,3
]}

机构：

[1] Hosp Sick Children, Res Inst, Program Genet & Genome Biol, Toronto, ON, Canada

[2] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

[3] Hosp Sick Children, Dept Paediat, Div Haematol Oncol, Marrow Failure & Myelodysplasia Program, Toronto, ON, Canada

[4] Childrens Hosp Western Ontario, Div Haematol Oncol, London, ON, Canada

[5] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[6] Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada

[7] Hosp Sick Children, Div Gastroenterol & Nutr, Toronto, ON, Canada

[8] Univ Toronto, Fac Med, McLaughlin Ctr, Toronto, ON, Canada

[9] Univ Toronto, Dept Mol Genet, Fac Med, Toronto, ON, Canada

来源：

BLOOD | 2017年 / 129卷 / 11期

基金：

加拿大健康研究院;

关键词：

BONE-MARROW FAILURE; 60S RIBOSOMAL-SUBUNIT; SACCHAROMYCES-CEREVISIAE; SBDS; PROTEIN; PHENOTYPE; DEFICIENCY; MATURATION; DIAGNOSIS; CHAPERONE;

D O I：

10.1182/blood-2016-08-735431

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

引用

页码：1557 / 1562

页数：6

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