Prenatal diagnosis in factor XIII-A deficiency

Archives of Disease in Childhood: Fetal and Neonatal Edition

Volumn 80, Issue 3, 1999, Pages

  Killick, Caroline J ^a,b,c   Barton, Carol J ^a   Aslam, Shazia ^b   Standen, Graham ^a,b  

^a ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^b Department of Haematology ^*  (United Kingdom)

^c BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Autosomal recessive trait; Factor XIII A deficiency; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 13A;

ARTICLE; BLEEDING; BLOOD CLOTTING FACTOR 13A DEFICIENCY; BLOOD CLOTTING FACTOR DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC VALUE; DNA DETERMINATION; FAMILY STUDY; HUMAN; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 0032851869     PISSN: 13592998     EISSN: 14682052     Source Type: Journal    
DOI: 10.1136/fn.80.3.F238     Document Type: Article

References (11)

1. Board PG, Losowsky MS, Miloszewski KJA. Factor XIII: inherited and acquired deficiency. Blood Rev 1993;7:229-42.
2. Puers C, Holly A, Hammond C, et al. Allelic ladder characterisation of the short tandem repeat polymorphism in the 5' flanking region to the human coagulation factor XIII A subunit gene. Getiomia 1994;23:260-4.
3. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res 1991;19:4306.
4. Chung SI, Lewis MS, Folk JE. Relationships of the catalytic properties of human plasma and platelet transglutaminase (activated blood coagulation factor XIII) to their subunit structures. JBiolChcm 1974;249:940-50.
5. Hashiguchi T, Saito M, Morishita E, et al. Two genetic defects in a patient with complete deficiency of the b subunit for coagulation factor XIII. Blood 1993;82:145-50.
6. Ichinose A, Davie EW. Characterisation of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc NatI Acad Sei USA 1988;8S:5829-33.
7. Anwar R, Stewart AD, Miloszewski KJA, et al. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. BrJHaemarcl 1995;91:728-35.
8. Aslam S, Yee VC, Narayanan S, et al. Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIIIA subunit. Br J Hacmatol 1997;9S:346-52.
9. Aslam S, Bowen DJ, Mandalaki T, et al. Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. Am J Hcmatol 1996;53:77-SO.
10. 171→stop codon) in factor XIII A subunit deficiency. Br J Hacmatol 1993;85:769-72.
11. Kangsadalampai S, Coggan M, Caglayan SH, cl ai. Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency. Thromb llacmostas 1996;76:879-82.