Article
Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?
Biological chemistry - 1 Jun 1999
Nutt S L, Busslinger M
Abstract excerpt
It is generally assumed that most mammalian genes are transcribed from both alleles. Hence, the diploid state of the genome offers the advantage that a loss-of-function mutation in one allele can be compensated for by the remaining wild-type allele of the same gene. Indeed, the vast majority of human disease syndromes and engineered mutations in the mouse genome are recessive, indicating that recessiveness is the...
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