Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis [3]

British Journal of Haematology

Volumn 112, Issue 1, 2001, Pages 251-252

  Giansily Blaizot, Muriel ^a   Aguilar Martinez, Patricia ^a   Mazurier, Claudine ^b   Cneude, Fabrice ^b   Goudemand, Jenny ^b   Schved, Jean Francois ^a   De Martinville, Berengère ^b  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Factor VII deficiency; Genotyping; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 7;

BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; LETTER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; HEMOPHILIA A; HUMANS; INFANT, NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035134814     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02497-4.x     Document Type: Letter

References (6)

1. Inherited factor VII deficiency: Molecular genetics and pathophysiology
2. Phenotypic and genotypic analysis of 32 unrelated patients with severe inherited factor VII deficiency: A multicentric study
3. Detection of two misssense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)
4. Exclusion of the first ECF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
5. Prenatal exclusion of severe factor VII deficiency by DNA sequencing
6. Molecular characterisation of 22 families with factor VII deficiency