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Topka et al., 2015 - Google Patents

Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia

Topka et al., 2015

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Document ID
11696108371240429594
Author
Topka S
Vijai J
Walsh M
Jacobs L
Maria A
Villano D
Gaddam P
Wu G
McGee R
Quinn E
Inaba H
Hartford C
Pui C
Pappo A
Edmonson M
Zhang M
Stepensky P
Steinherz P
Schrader K
Lincoln A
Bussel J
Lipkin S
Goldgur Y
Harit M
Stadler Z
Mullighan C
Weintraub M
Shimamura A
Zhang J
Downing J
Nichols K
Offit K
Publication year
Publication venue
PLoS genetics

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Snippet

Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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