ADA2 deficiency due to a novel structural variation in 22q11.1.

Autor: Grossi A; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Cusano R; CRS4, Science and Technology Park Polaris, Pula, Italy., Rusmini M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Penco F; UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Schena F; UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Podda RA; Ospedale Brotzu and Università di Cagliari, Cagliari, Italy., Caorsi R; UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Gattorno M; UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Uva P; CRS4, Science and Technology Park Polaris, Pula, Italy., Ceccherini I; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2019 Jun; Vol. 95 (6), pp. 732-733. Date of Electronic Publication: 2019 Mar 28.
DOI: 10.1111/cge.13518
Databáze: MEDLINE
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