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Resolving variant-to-function relationships in hematopoiesis.

08:00 EDT 1st April 2019 | BioPortfolio

Summary of "Resolving variant-to-function relationships in hematopoiesis."

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This article was published in the following journal.

Name: Nature genetics
ISSN: 1546-1718
Pages: 581-583

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Medical and Biotech [MESH] Definitions

The development and formation of various types of BLOOD CELLS. Hematopoiesis can take place in the BONE MARROW (medullary) or outside the bone marrow (HEMATOPOIESIS, EXTRAMEDULLARY).

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

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