Article
Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene.
British journal of haematology - 1 Aug 1997
Pavlu J, Mortazavi Y, Tooze J, Marsh J C, Gordon-Smith E C, Rutherford T R
Abstract excerpt
Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired stem cell abnormality which frequently develops in patients with aplastic anaemia. The disease is due to somatic mutations in the PIG-A gene, and a variety of mutations have been reported. The majority are point mutations, or small insertions and deletions resulting in a frameshift. Previous insertions reported have all been within the range of 1-10 bp. We...
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