Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene

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Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1023-1028

Oxford University Press

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II

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Human Molecular Genetics, Vol. 17, Iss. 1, 2008-01 ,pp. : 158-158

Oxford University Press

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Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1578-1581

John Wiley & Sons Inc

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Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias

By Wollnik Bernd  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1943-1949

Oxford University Press

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene ( ECM1 )

By Wessagowit V.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 833-840

Oxford University Press

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