Severe and moderate hemophilia a: Identification of 38 new genetic alterations

Haematologica

Volumn 93, Issue 7, 2008, Pages 1091-1094

  Casaña, Pilar ^a   Cabrera, Noelia ^a   Cid, Ana Rosa ^a   Haya, Saturnino ^a   Beneyto, Magdalena ^a   Espinós, Carmen ^b   Cortina, Vicente ^a   Dasí, Maria Angeles ^c   Aznar, Josè Antonio ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL INFANTIL LA FE   (Spain)

Author keywords

F8 gene; Hemophilia A; Intron 1 inversion; Intron 22 inversion; Moderate hemophilia.; Severe hemophilia

Indexed keywords

ALLELE; ARTICLE; BIOINFORMATICS; DISEASE SEVERITY; FAMILY; FEMALE; GENE REARRANGEMENT; HEMOPHILIA A; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PREDICTION;

CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HEMOPHILIA A; HETEROZYGOTE; HUMANS; INTRONS; INVERSION, CHROMOSOME; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE;

EID: 46849095370     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12344     Document Type: Article

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