Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 5, 2000, Pages 417-422

  Ramenghi, U ^a   Campagnoli, M F ^a   Garelli, E ^a   Carando, A ^a   Brusco, A ^a   Bagnara, G P ^a   Strippoli, P ^a   Izzi, G C ^a   Brandalise, S ^a   Riccardi, R ^a   Dianzani, I ^a  

^a Department of Paediatrics ^*  (Italy)

Author keywords

Diamond Blackfan anemia; Erythropoiesis; Malformation; Ribosome; RPS19

Indexed keywords

RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; ITALY; MALE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; RNA SPLICING;

EID: 0034523652     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0324     Document Type: Article

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