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Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1579-1584

Oxford University Press

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A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

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Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 349-356

Oxford University Press

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

By Senderek Jan   Bergmann Carsten   Weber Susanne   Ketelsen Uwe-Peter   Schorle Hubert   Rudnik-Schöneborn Sabine   Büttner Reinhard   Buchheim Eckhard   Zerres Klaus  

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Targeted disruption of Slc19a2 , the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

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Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2951-2960

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