Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

By Grech V.  

Human Molecular Genetics, Vol. 11, Iss. 4, 2002-02 ,pp. : 379-388

Oxford University Press

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Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

By Huber Tobias B.  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3397-3405

Oxford University Press

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Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

By Morrissette J.J.D.   Colliton R.P.   Spinner N.B.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 405-413

Oxford University Press

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

By Mee Lisa  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1475-1488

Oxford University Press

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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

By Griffin A.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2509-2514

Oxford University Press

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