Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

By Kalatzis Vasiliki   Nevo Nathalie   Cherqui Stéphanie   Antignac Corinne  

Human Molecular Genetics, Vol. 13, Iss. 13, 2004-07 ,pp. : 1361-1371

Oxford University Press

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FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis

By Bendavid Claude   Kleta Robert   Long Robert   Ouspenskaia Maia   Muenke Maximilian   Haddad Bassem   Gahl William  

Human Genetics, Vol. 115, Iss. 6, 2004-11 ,pp. : 510-514

Springer Publishing Company

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

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Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1591-1600

Oxford University Press

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Mutations in the diastrophic dysplasia sulfate transporter ( DTDST ) gene: correlation between sulfate transport activity and chondrodysplasia phenotype

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Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1485-1490

Oxford University Press

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Functional consequences of mutations in the early growth response 2 gene ( EGR2 ) correlate with severity of human myelinopathies

By Warner Laura E.  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1245-1251

Oxford University Press

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