The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

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Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 337-343

Oxford University Press

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Analysis of murine and human SNRPN gene imprinting in transgenic mice

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Mammalian Genome, Vol. 10, Iss. 6, 1999-06 ,pp. : 549-555

Springer Publishing Company

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Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

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Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader–Willi syndrome

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Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency

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Springer Publishing Company

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