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Biology and Molecular Analysis of Human Hematopoiesis Genetics

ABSTRACT:

In this study we have performed exome sequencing using the hybrid capture method that has previously been described (Gnirke et al., Nature Biotechnology, 2009) on genomic DNA samples from patients with the congenital bone marrow failure syndrome that affects the erythroid lineage, specifically, Diamond-Blackfan anemia. This disease is characterized by a hypoplastic anemia and approximately 50% of cases are attributable to mutations in ribosomal protein gene subunits. The other 50% of cases do not have a known genetic etiology and the purpose of this study is to attempt to delineate such causes.

PROVIDER: phs000474 | dbGaP |

SECONDARY ACCESSION(S): PRJNA89541PRJNA157239

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000474.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000474.HumanHematopoiesisGen.v1.p1.MULTI.pdf	Pdf
	manifest_phs000474.HumanHematopoiesisGen.v1.p1.c1.BMF.pdf	Pdf
	datadict_v2.xsl	Other

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Biology and Molecular Analysis of Human Hematopoiesis Genetics

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