A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

Oxford University Press

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A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia

By Jumlongras Dolrudee   Lin Jenn-Yih   Chapra Anas   Seidman Christine   Seidman Jonathan   Maas Richard   Olsen Bjorn  

Human Genetics, Vol. 114, Iss. 3, 2004-02 ,pp. : 242-249

Springer Publishing Company

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Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator

By Wei L.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1761-1769

Oxford University Press

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

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Molecular Syndromology, Vol. 3, Iss. 1, 2012-06 ,pp. : 6-13

Karger

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Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

By Lbbehusen Jrgen   Thiel Christian   Rind Nina   Ungar Daniel   Prinsen Berthil H.C.M.T.   de Koning Tom J.   van Hasselt Peter M.   Krner Christian  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3623-3633

Oxford University Press

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