Article
DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2002
Hitchins Megan P, Bentley Louise, Monk David, Beechey Colin, Peters Jo, Kelsey Gavin, Ishino Fumitoshi, Preece Michael A, Stanier Philip, Moore Gudrun E
Abstract excerpt
Maternal duplication of human 7p11.2-p13 has been associated with Silver-Russell syndrome (SRS) in two familial cases. GRB10 is the only imprinted gene identified within this region to date. GRB10 demonstrates an intricate tissue- and isoform-specific imprinting profile in humans, with paternal expression in fetal brain and maternal expression of one isoform in skeletal muscle. The mouse homolog is maternally...
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