Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser

Thrombosis and Haemostasis

Volumn 104, Issue 4, 2010, Pages 718-723

  Martín Salces, Mónica ^a   Venceslá, Adoración ^b   Alvárez Román, María Teresa ^a   Rivas, Isabel ^a   Fernández, Ihosvany ^a   Butta, Nora ^a   Baena, Manel ^b   Fuentes Prior, Pablo ^b   Tizzano, Eduardo F ^b   Jiménez Yuste, Víctor ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

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

Author keywords

F8 gene; Females; Haemophilia A; Mutations; Von Willebrand factor

Indexed keywords

BLOOD CLOTTING FACTOR 8; CARRIER PROTEIN; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; BLEEDING; CHILD; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENETIC COUNSELING; HEMOPHILIA A; HUMAN; INFANT; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TESTICULAR FEMINIZATION;

ADOLESCENT; ANDROGEN-INSENSITIVITY SYNDROME; CHILD; CHROMOSOMES, HUMAN, X; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; HEMARTHROSIS; HEMOPHILIA A; HUMANS; MALE; MUTATION, MISSENSE; PHENYLALANINE; SERINE; SEX; SIBLINGS; SPAIN; YOUNG ADULT;

EID: 77958122147     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-02-0085     Document Type: Article

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