In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

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Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 411-420

Oxford University Press

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Expression of the Sonic hedgehog ( SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

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Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1683-1689

Oxford University Press

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

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The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

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Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

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Somatic mutations of CASP3 gene in human cancers

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Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 112-115

Springer Publishing Company

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