Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene - a case report

Haemophilia

Volumn 19, Issue 5, 2013, Pages

  Rost, S ^a   Aumann, V ^b   Nanda, I ^a   Oldenburg, J ^c   Muller C R ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b Pediatric Oncology   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8 GENE; CASE REPORT; CHILD; CHROMOSOME DELETION X; GENE; GENE AMPLIFICATION; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FACTOR VIII; FEMALE; HEMOPHILIA A; HUMANS; MUTATION, MISSENSE;

EID: 84883051941     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12190     Document Type: Letter

References (10)

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