Identification of a novel factor X deletion in combination with a missense mutation in the F1O gene Genotype-phenotype correlation in a girl with severe factor X deficiency

Hamostaseologie

Volumn 29, Issue 2, 2009, Pages 184-186

  Hainmann, I ^a   Oldenburg, J ^b   Pavlova, A ^b   Superti Furga, A ^a   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Compound heterozygous mutation; Deletion; Factor X deficiency; Missense mutation

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 9 CONCENTRATE; TRANEXAMIC ACID;

ARTICLE; BLEEDING; BLOOD ANALYSIS; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING TEST; CASE REPORT; CHILD; DNA DETERMINATION; EXON; F10 GENE; FEMALE; GENE; GENE DELETION; GENOTYPE; HEMARTHROSIS; HEMATOMA; HETEROZYGOSITY; HUMAN; MICROCYTIC ANEMIA; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD;

EID: 66749154993     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1617019     Document Type: Article

References (6)

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