A novel I247T missense mutation in the haptoglobin 2 β-chain decreases the expression of the protein and is associated with ahaptoglobinemia

By Teye Kwesi   Quaye Isaac   Koda Yoshiro   Soejima Mikiko   Pang Hao   Tsuneoka Makoto   Amoah Albert   Adjei Andrew   Kimura Hiroshi  

Human Genetics, Vol. 114, Iss. 5, 2004-04 ,pp. : 499-502

Springer Publishing Company

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ATP2A2 mutations in Darier’s disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

By Ruiz-Perez Victor L.   Carter Simon A.   Healy Eugene  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1621-1630

Oxford University Press

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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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Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

By Charbonnier F.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1825-1829

Oxford University Press

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

By Litt M.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 471-474

Oxford University Press

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