Literature DB >> 6918357

HLA typing in a new family with Fletcher factor deficiency.

C Raffoux, P Alexandre, P Perrier, M E Briquel, F Streiff.   

Abstract

In a nonrelated white family, the Fletcher factor level in the father was 0.41 U/ml and in the mother, 0.30 U/ml (controls, 0.75-1.25 U/ml). One sibling with recurrent epistaxis had a level of 0.012 U/ml, whereas the other without tendency to spontaneous bleeding had levels between 0.75 and 0.32 U/ml. This suggests autosomal recessive transmission with clinical symptoms when the defect is homozygous. HLA antigens were studied to determine whether characters of the histocompatibility system and this defect are linked: we determined that the gene(s) of the disease is (are) not shared on the HLA complex.

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Year:  1982        PMID: 6918357     DOI: 10.1007/bf00281268

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  14 in total

1.  Fletcher factor deficiency: family study and detection.

Authors:  C F Abildgaard; J Harrison
Journal:  Blood       Date:  1974-05       Impact factor: 22.113

2.  The relation of 'Fletcher Factor' to factors XI and XII.

Authors:  W E Hathaway; J Alsever
Journal:  Br J Haematol       Date:  1970-02       Impact factor: 6.998

3.  A pre-albumin activator of prekallikrein.

Authors:  A P Kaplan; K F Austen
Journal:  J Immunol       Date:  1970-10       Impact factor: 5.422

4.  Evidence for a new plasma thromboplastin factor. I. Case report, coagulation studies and physicochemical properties.

Authors:  W E Hathaway; L P Belhasen; H S Hathaway
Journal:  Blood       Date:  1965-11       Impact factor: 22.113

5.  The enigma of severe factor XI deficiency without hemmorrhagic symptoms. Distinction from Hageman factor and "Fletcher factor" deficiency; family study; and problems of diagnosis.

Authors:  J R Edson; J G White; W Krivit
Journal:  Thromb Diath Haemorrh       Date:  1967-12-31

6.  Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.

Authors:  C B Laurell
Journal:  Anal Biochem       Date:  1966-04       Impact factor: 3.365

7.  Fletcher factor deficiency: report of a new family.

Authors:  J A Aznar; F España; J Aznar; A Tascon; C Jimenez
Journal:  Scand J Haematol       Date:  1978-08

8.  Activation of Hageman factor in solid and fluid phases. A critical role of kallikrein.

Authors:  C G Cochrane; S D Revak; K D Wuepper
Journal:  J Exp Med       Date:  1973-12-01       Impact factor: 14.307

9.  Fletcher factor deficiency--detection of a severe case in a population survey.

Authors:  E M Essien; M I Ebhota
Journal:  Acta Haematol       Date:  1977       Impact factor: 2.195

10.  Prekallikrein deficiency in man.

Authors:  K D Wuepper
Journal:  J Exp Med       Date:  1973-12-01       Impact factor: 14.307

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  1 in total

1.  A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System.

Authors:  Ivy Riano; Klaorat Prasongdee
Journal:  J Investig Med High Impact Case Rep       Date:  2021 Jan-Dec
  1 in total

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