F8 gene dosage defects in atypical patients with severe haemophilia A

Haemophilia

Volumn 18, Issue 5, 2012, Pages 708-713

  Vencesla A ^a   Baena, M ^a   Garrido, R P ^a,b   Nunez R ^a,b   Velasco, F ^a,c   Rosell, J ^a,d   Villar, A ^a,e   Jimenez Yuste V ^a,e   Baiget, M ^a   Tizzano, E F ^a  

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

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c Maimonides Institute for Research in Biomedicine of Cordoba   (Spain)

^d HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Duplications; F8 gene; Haemophilia A; Klinefelter syndrome; MLPA

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ADOLESCENT; ADULT; ARTICLE; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEMOPHILIA A; HUMAN; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; GENE DOSAGE; GENE DUPLICATION; HEMOPHILIA A; HUMANS; KLINEFELTER SYNDROME; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE; SEQUENCE DELETION; SPAIN;

EID: 84865569829     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02818.x     Document Type: Article

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