Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

By Murga-Zamalloa Carlos A.   Atkins Stephen J.   Peranen Johan   Swaroop Anand   Khanna Hemant  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3591-3598

Oxford University Press

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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

By Zelante Leopoldo   Gasparini Paolo   Estivill Xavier  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1605-1609

Oxford University Press

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An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

By Mustapha M.  

Human Molecular Genetics, Vol. 8, Iss. 3, 1999-03 ,pp. : 409-412

Oxford University Press

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Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan

By Veske Andres   Oehlmann Ralph   Younus Farah   Mohyuddin Aisha   Müller-Myhsok Bertram   Qasim Mehdi S.   Gal Andreas  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 165-168

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Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

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Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 90-98

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