First report of two independent point factor VIII mutations in a family with haemophilia A: A word of caution for carrier diagnosis

Thrombosis and Haemostasis

Volumn 94, Issue 3, 2005, Pages 675-677

  Tizzano, Eduardo F ^a   Venceslá, Adoración ^a   Baena, Manel ^a   Cornet, Mónica ^a   Calvo, María T ^b   Lucía, José F ^b   Pérez Garrido, Rosario ^c   Núñez, Ramiro ^c   Baiget, Montserrat ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; GENOMIC DNA; NUCLEOTIDE;

ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA ISOLATION; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE INSERTION; GENETIC ANALYSIS; GENETIC CODE; GENETIC MARKER; HAPLOTYPE; HEMOPHILIA A; HETEROZYGOTE; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME;

EID: 24944536804     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-03-0675     Document Type: Article

References (14)

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