Literature DB >> 7824420

Genetic analysis in a female manifesting haemophilia B.

S Palmer1, G R Standen, P Yates, A Oakhill.   

Abstract

A 5 year old female child presented with a psoas haematoma as the first manifestation of haemophilia B. Molecular genetic studies were performed to investigate the inheritance of the disorder and the mechanisms by which females may express the haemophilia B phenotype are discussed.

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Year:  1994        PMID： 7824420      PMCID： PMC2397803          DOI： 10.1136/pgmj.70.829.828

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  2 in total

1.  Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction.

Authors:  D J Bowen; P Thomas; C E Webb; P Bignell; I R Peake; A L Bloom
Journal:  Br J Haematol       Date:  1991-04       Impact factor: 6.998

Review 2.  Structure and function of factor IX: defects in haemophilia B.

Authors:  R A McGraw; L M Davis; R L Lundblad; D W Stafford; H R Roberts
Journal:  Clin Haematol       Date:  1985-06
  2 in total
  2 in total

1.  Combined factor IX and XI deficiency discovered at liver biopsy.

Authors:  C M Hunt; K L Carson; T L Ortel
Journal:  Dig Dis Sci       Date:  1997-08       Impact factor: 3.199

Review 2.  Genetic causes of haemophilia in women and girls.

Authors:  Connie H Miller; Christopher J Bean
Journal:  Haemophilia       Date:  2020-12-13       Impact factor: 4.263
  2 in total

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