Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
Cifaldi, Cristina; Serafinelli, Jessica; Petricone, Davide; Brigida, Immacolata; Di Cesare, Silvia; Di Matteo, Gigliola; Chiriaco, Maria; De Vito, Rita; Palumbo, Giuseppe; Rossi, Paolo; Palma, Paolo; Cancrini, Caterina; Aiuti, Alessandro; Finocchi, Andrea.
J Pediatr Hematol Oncol
; 2018 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-30044346
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
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JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.
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Genetic hitchhiking in spatially extended populations.
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[Clinical and genetic features of limb-girdle muscular dystrophy type 1B: a case report].