Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

American Journal of Hematology

Volumn 86, Issue 9, 2011, Pages 727-732

  Russo, Roberta ^a,b   Gambale, Antonella ^a   Esposito, Maria Rosaria ^a,b   Serra, Maria Luisa ^c   Troiano, Annaelena ^a   de Maggio, Ilaria ^a,b   Capasso, Mario ^a,b   Luzzatto, Lucio ^d   Delaunay, Jean ^e   Tamary, Hannah ^f   Iolascon, Achille ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d ISTITUTO TOSCANO TUMORI   (Italy)

^e INSERM   (France)

^f TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AGE DETERMINATION; AGED; ARTICLE; COMPARATIVE STUDY; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MIDDLE EAST; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SEC23B GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; DNA MUTATIONAL ANALYSIS; EUROPE; EVOLUTION, MOLECULAR; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HUMANS; ITALY; MALE; MEDITERRANEAN REGION; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; REGISTRIES; VESICULAR TRANSPORT PROTEINS;

EID: 80051725042     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.22096     Document Type: Article

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