Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading...
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms
About this item
Full title
Author / Creator
Pegliasco, Jean , Hirsch, Pierre , Marzac, Christophe , Isnard, Françoise , Meniane, Jean-Côme , Deswarte, Caroline , Pellet, Philippe , Lemaitre, Céline , Leroy, Gwendoline , Rabadan Moraes, Graciela , Guermouche, Hélène , Schmaltz-Panneau, Barbara , Pasquier, Florence , Colas, Chrystelle , Benusiglio, Patrick R. , Bera, Odile , Bourhis, Jean-Henri , Brissot, Eolia , Caron, Olivier , Chraibi, Samy , Cony-Makhoul, Pascale , Delaunay-Darivon, Christine , Lapusan, Simona , de Fontbrune, Flore Sicre , Fuseau, Pascal , Najman, Albert , Vainchenker, William , Delhommeau, François , Micol, Jean-Baptiste , Plo, Isabelle and Bellanné-Chantelot, Christine
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The germline predisposition associated with the autosomal dominant inheritance of the 14q32 duplication implicating
ATG2B/GSKIP
genes is characterized by a wide clinical spectrum of myeloid neoplasms. We analyzed 12 asymptomatic carriers and 52 patients aged 18–74 years from six families, by targeted sequencing of 41 genes commonly mutated in...
Alternative Titles
Full title
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms
Authors, Artists and Contributors
Author / Creator
Hirsch, Pierre
Marzac, Christophe
Isnard, Françoise
Meniane, Jean-Côme
Deswarte, Caroline
Pellet, Philippe
Lemaitre, Céline
Leroy, Gwendoline
Rabadan Moraes, Graciela
Guermouche, Hélène
Schmaltz-Panneau, Barbara
Pasquier, Florence
Colas, Chrystelle
Benusiglio, Patrick R.
Bera, Odile
Bourhis, Jean-Henri
Brissot, Eolia
Caron, Olivier
Chraibi, Samy
Cony-Makhoul, Pascale
Delaunay-Darivon, Christine
Lapusan, Simona
de Fontbrune, Flore Sicre
Fuseau, Pascal
Najman, Albert
Vainchenker, William
Delhommeau, François
Micol, Jean-Baptiste
Plo, Isabelle
Bellanné-Chantelot, Christine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04441339v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04441339v1
Other Identifiers
ISSN
0887-6924
E-ISSN
1476-5551
DOI
10.1038/s41375-021-01319-w
