Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation

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Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 79-89

Oxford University Press

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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

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Human Molecular Genetics, Vol. 18, Iss. 16, 2009-08 ,pp. : 2963-2974

Oxford University Press

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Two frequent missense mutations in Pendred syndrome

By Dietrich N.L.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1099-1104

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WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

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Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)

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Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1105-1112

Oxford University Press

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