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

Access to resources Recommend Favorite

OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation

By Ban Tadato   Heymann Jrgen A.W.   Song Zhiyin   Hinshaw Jenny E.   Chan David C.  

Human Molecular Genetics, Vol. 19, Iss. 11, 2010-06 ,pp. : 2113-2122

Oxford University Press

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus

By Bejjani Bassem A.  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 367-374

Oxford University Press

Access to resources Recommend Favorite

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

By Fukuoka Hisakuni   Kanda Yukihiko   Ohta Shuji   Usami Shin-ichi  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 510-515

Springer Publishing Company

Access to resources Recommend Favorite