PMID: 2121641Oct 1, 1990Paper

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

Human Genetics
L P BergD N Cooper

Abstract

Specifically-primed reverse transcripts of lymphocyte-derived factor VIII (FVIII) mRNA were successfully amplified by means of the polymerase chain reaction (PCR) thus further extending the phenomenon of ectopic ("illegitimate") transcription of tissue-specific genes. The diagnostic potential of a basal rate of transcription in non-expressing tissues was then demonstrated by the detection of a novel point mutation in the FVIII gene causing haemophilia A by PCR/direct sequencing of ectopically transcribed mRNA derived from patient lymphocytes.

Citations

Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·J H Bassett, R V Thakker
Nov 1, 1991·Journal of Medical Genetics·G Chalkley, A Harris
Sep 1, 1992·Journal of Medical Genetics·F RininslandJ Reiss
Jul 1, 1991·Transfusion Medicine Reviews·D Lillicrap
May 13, 2010·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Nuzhat Jahan FaridiR N K Bamezai
Sep 30, 2009·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Jung H LeeWon B Lee
Jan 1, 1992·Human Mutation·J C KaplanJ Chelly
Jul 20, 2001·Human Mutation·A JakubowskaJ Lubinski

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