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Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

作者信息

Parikh Shefali, Perdigones Nieves, Paessler Michelle, Greenbaum Barbara, Tooke Laura S, Biegel Jaclyn A, Mason Philip J, Bessler Monica

出版信息

Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31.

Abstract
摘要

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本文引用的文献

1
Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.
Br J Haematol. 2012 May;157(4):503-5. doi: 10.1111/j.1365-2141.2012.09033.x. Epub 2012 Feb 1.
3
Mutations to the rescue.
Nat Med. 2011 Apr;17(4):405-7. doi: 10.1038/nm0411-405.
5
Shwachman-Diamond syndrome.
Semin Hematol. 2006 Jul;43(3):178-88. doi: 10.1053/j.seminhematol.2006.04.006.
6
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Blood. 2005 Aug 15;106(4):1253-8. doi: 10.1182/blood-2005-02-0807. Epub 2005 Apr 28.
7
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet. 2003 Jan;33(1):97-101. doi: 10.1038/ng1062. Epub 2002 Dec 23.
8
Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.
Pediatr Hematol Oncol. 2002 Oct-Nov;19(7):525-8. doi: 10.1080/08880010290097350.
10
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase.
J Mol Biol. 1975 May 25;94(3):441-8. doi: 10.1016/0022-2836(75)90213-2.

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