ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

By Shoubridge Cheryl   Tan May Huey   Seiboth Grace   Gécz Jozef  

Human Molecular Genetics, Vol. 21, Iss. 7, 2012-04 ,pp. : 1639-1647

Oxford University Press

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Interaction among SOX10 , PAX3 and MITF , three genes altered in Waardenburg syndrome

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Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1907-1917

Oxford University Press

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Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations

By Hanson I.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 165-172

Oxford University Press

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Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9

By Wang Ying   Groppe Jay C.   Wu Jingfeng   Ogawa Takuya   Mues Gabriele   D'Souza Rena N.   Kapadia Hitesh  

Human Molecular Genetics, Vol. 18, Iss. 15, 2009-08 ,pp. : 2863-2874

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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

By Revenkova Ekaterina   Focarelli Maria Luisa   Susani Lucia   Paulis Marianna   Bassi Maria Teresa   Mannini Linda   Frattini Annalisa   Delia Domenico   Krantz Ian   Vezzoni Paolo   Jessberger Rolf   Musio Antonio  

Human Molecular Genetics, Vol. 18, Iss. 3, 2009-02 ,pp. : 418-427

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