Small FVIII in gene rearrangements in 18 hemophilia a patients: Five novel mutations

American Journal of Hematology

Volumn 78, Issue 2, 2005, Pages 117-122

  Bicocchi, Maria Patrizia ^a   Pasino, Mirella ^a   Lanxa, Tiziana ^a   Bottini, Federico ^a   Molinari, Angelo Claudio ^a   Caprino, Daniela ^a   Rosano, Camillo ^b   Acquila, Maura ^a  

^a G GASLINI INSTITUTE   (Italy)

^b CENTRO DI BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

DHPLC; F8C; FVIII; Hemophilia A; Structural effects

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 8; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME ARM; CLINICAL ARTICLE; COHORT ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HEMOPHILIA A; HUMAN; ITALY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; STOP CODON; X CHROMOSOME;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FACTOR VII; GENE REARRANGEMENT; HEMOPHILIA A; HUMANS; ITALY; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE DELETION;

EID: 13244275117     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20234     Document Type: Article

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