Congenital dyserythropoietic anemia type II: Molecular analysis and expression of the SEC23B Gene

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Punzo, Francesca ^a,b   Bertoli Avella, Aida M ^a   Scianguetta, Saverio ^b   Della Ragione, Fulvio ^b   Casale, Maddalena ^b   Ronzoni, Luisa ^c   Cappellini, Maria D ^c   Forni, Gianluca ^d   Oostra, Ben A ^a   Perrotta, Silverio ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d GALLIERA HOSPITAL   (Italy)

Author keywords

CDA II; Coat complex protein II; Congenital dyserythropoietic anemia; Red blood cell; SEC23B

Indexed keywords

MEMBRANE PROTEIN; SEC23B PROTEIN; UNCLASSIFIED DRUG; MESSENGER RNA; SEC23B PROTEIN, HUMAN; VESICULAR TRANSPORT PROTEIN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ARTICLE; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; CONTROLLED STUDY; ERYTHROBLAST; ERYTHROID PRECURSOR CELL; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LYMPHOCYTE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PROTEIN CONTENT; CELL CULTURE; CHEMISTRY; CONGENITAL DYSERYTHROPOIETIC ANEMIA; DNA SEQUENCE; FAMILY; GENETICS; ITALY; METABOLISM; MUTATION;

ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; CELLS, CULTURED; ERYTHROID PRECURSOR CELLS; FAMILY; HUMANS; ITALY; MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; VESICULAR TRANSPORT PROTEINS;

EID: 84855173329     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-89     Document Type: Article

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