Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: Identification of 23 new mutations

Haemophilia

Volumn 16, Issue 5, 2010, Pages 791-800

  Riccardi, F ^a   Tagliaferri, A ^a   Martorana, D ^a   Rivolta, G F ^a   Valdre L ^b   Rodorigo, G ^b   Biasoli, C ^c   D'inca M ^d   Serino, M L ^e   Macchi, S ^f   Vincenzi, D ^f   Arbasi, M ^g   Pedrazzi, P ^h   Volta, M ⁱ   Di Perna, C ^a   Ippolito, L ^a   Savi, M ^a   Neri, T M ^a  

^a UNIVERSITY HOSPITAL OF PARMA   (Italy)

^b Haemophilia Centre of Bologna   (Italy)

^c Haemophilia Centre of Cesena   (Italy)

^d Hospital of Reggio Emilia   (Italy)

^e Mental Health Centre of Ferrara   (Italy)

^f Haemophilia Centre of Ravenna Faenza   (Italy)

^g Haemophilia Centre of Piacenza   (Italy)

^h Haemophilia Centre of Modena   (Italy)

ⁱ Emilia Romagna Region   (Italy)

Author keywords

DHPLC; Direct sequencing; F8; Factor VIII; Haemophilia A; Mutation analysis

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

ARTICLE; CHROMOSOME DELETION; CHROMOSOME INSERTION; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE CARRIER; EXON; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; HEMOPHILIA A; HUMANS; ITALY; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEQUENCE INVERSION;

EID: 77955932423     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02228.x     Document Type: Article

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