Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Human mutation

Volumn 22, Issue 4, 2003, Pages 338-339

  Savino, Maria ^a   Borriello, Adriana ^a   D'Apolito, Maria ^a   Criscuolo, Maria ^a   Del Vecchio, Maria ^a   Bianco, Anna Monica ^a   Di Perna, Michele ^a   Calzone, Rita ^a   Nobili, Bruno ^a   Zatterale, Adriana ^a   Zelante, Leopoldo ^a   Joenje, Hans ^a   Della Ragione, Fulvio ^a   Savoia, Anna ^a  

^a IRCCS San Giovanni Rotondo   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; FANCA PROTEIN, HUMAN; FANCONI ANEMIA GROUP A PROTEIN; PROTEIN;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CELL LINE; FANCONI ANEMIA; GENETICS; HUMAN; ITALY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; RNA SPLICING; WESTERN BLOTTING;

ALLELES; ALTERNATIVE SPLICING; BLOTTING, WESTERN; CELL LINE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; HUMANS; ITALY; MUTATION; PHENOTYPE; PROTEINS; RNA SPLICING;

EID: 2142805258     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9180     Document Type: Article

References (0)