Congenital Dyserythropoietic Anemia type II (CDAII) is caused by mutations in the SEC23B gene

Human Mutation

Volumn 30, Issue 9, 2009, Pages 1292-1298

  Bianchi, Paola ^a   Fermo, Elisa ^a   Vercellati, Cristina ^a   Boschetti, Carla ^a   Barcellini, Wilma ^a   Iurlo, Alessandra ^a   Marcello, Anna Paola ^a   Righetti, Pier Giorgio ^b   Zanella, Alberto ^a,c  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b POLITECNICO DI MILANO   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

CDAII; CDAN2; Congenital dyserythropoietic anemia; SEC23B

Indexed keywords

COAT PROTEIN COMPLEX II; PROTEOME;

ADULT; ARTICLE; CDAN2 GENE; CELL MIGRATION; CHILD; CLINICAL ARTICLE; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ERYTHROCYTE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOMICS; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; MALE; MEMBRANE VESICLE; MISSENSE MUTATION; MULTIGENE FAMILY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; PROTEOMICS; SEC23B GENE;

ADULT; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; VESICULAR TRANSPORT PROTEINS;

EID: 69549088132     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21077     Document Type: Article

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