Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

By Patel N.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1369-1378

Oxford University Press

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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

By Pesch U.E.A.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1359-1368

Oxford University Press

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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

By Carelli Valerio   Schimpf Simone   Fuhrmann Nico   Valentino Maria Lucia   Zanna Claudia   Iommarini Luisa   Papke Monika   Schaich Simone   Tippmann Sabine   Baumann Britta   Barboni Piero   Longanesi Lora   Rugolo Michela   Ghelli Anna   Alavi Marcel V.   Youle Richard J.   Bucchi Laura   Carroccia Rosanna   Giannoccaro Maria Pia   Tonon Caterina   Lodi Raffaele   Cenacchi Giovanna   Montagna Pasquale   Liguori Rocco   Wissinger Bernd  

Human Molecular Genetics, Vol. 20, Iss. 10, 2011-05 ,pp. : 1893-1905

Oxford University Press

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Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects

By Desai Jayashree   Shannon Mark E.   Johnson Mahlon D.   Ruff David W.   Hughes Lori A.   Kerley Marilyn K.   Carpenter Donald A.   Johnson Dabney K.   Rinchik Eugene M.   Culiat Cymbeline T.  

Human Molecular Genetics, Vol. 15, Iss. 8, 2006-04 ,pp. : 1329-1341

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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

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Human Molecular Genetics, Vol. 14, Iss. 21, 2005-11 ,pp. : 3161-3168

Oxford University Press

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