1.
Paediatr Respir Rev
; 4(4): 348, 350, 2003 Dec.
Article
in English
| MEDLINE
| ID: mdl-14692404
Subject(s)
Cystic Fibrosis , Adolescent , Cystic Fibrosis/genetics , Cystic Fibrosis/prevention & control , Genetic Counseling , Homozygote , Humans , Male , Mutation
2.
Br J Haematol
; 104(4): 915-8, 1999 Mar.
Article
in English
| MEDLINE
| ID: mdl-10192459
ABSTRACT
Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor IX (FIX) gene by detecting 10/10 previously known FIX gene mutations. The FIX genes of a further 11 haemophilia B patients with unknown mutations were then screened and an abnormal CSGE profile was identified in all cases. Subsequent DNA sequencing demonstrated one of these to be a novel mutation (31133insT, Arg338Fs), the remaining 10 having been previously reported on the haemophilia B database. Mutation screening of the FIX gene using CSGE was demonstrated to be a rapid and efficient means of carrier analysis in families with haemophilia B.