Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

By Singh S.   Chao L.Y.   Mishra R.   Davies J.   Saunders G.F.  

Human Molecular Genetics, Vol. 10, Iss. 9, 2001-04 ,pp. : 911-918

Oxford University Press

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A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

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Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2051-2059

Oxford University Press

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Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

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Molecular Syndromology, Vol. 2, Iss. 2, 2011-12 ,pp. : 60-63

Karger

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Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation

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Human Molecular Genetics, Vol. 15, Iss. 14, 2006-07 ,pp. : 2185-2191

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A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

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Human Molecular Genetics, Vol. 17, Iss. 10, 2008-05 ,pp. : 1397-1405

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