PMC Links for Gene (Select 93662) - PMC

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Items: 4

Select item 37999161.

Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration

Jacque L. Duncan, Austin Roorda, Mili Navani, Sangeetha Vishweswaraiah, Reema Syed, Shiri Soudry, Kavitha Ratnam, Harini V. Gudiseva, Pauline Lee, Terry Gaasterland, Radha Ayyagari

Arch Ophthalmol. Author manuscript; available in PMC 2013 Oct 19.

Published in final edited form as: Arch Ophthalmol. 2012 Oct; 130(10): 1301–1308. doi: 10.1001/archophthalmol.2012.1906

PMCID:: PMC3799916

Abstract Article PDF–1.1M

Select item 29760512.

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg

J Med Genet. 2010 Oct; 47(10): 665–669. Published online 2010 Aug 30. doi: 10.1136/jmg.2009.069120

PMCID:: PMC2976051

Abstract Article PDF–597K

Select item 24836853.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Zhenglin Yang, Yali Chen, Concepcion Lillo, Jeremy Chien, Zhengya Yu, Michel Michaelides, Martin Klein, Kim A. Howes, Yang Li, Yuuki Kaminoh, Haoyu Chen, Chao Zhao, Yuhong Chen, Youssef Tawfik Al-Sheikh, Goutam Karan, Denis Corbeil, Pascal Escher, Shin Kamaya, Chunmei Li, Samantha Johnson, Jeanne M. Frederick, Yu Zhao, Changguan Wang, D. Joshua Cameron, Wieland B. Huttner, Daniel F. Schorderet, Frances L. Munier, Anthony T. Moore, David G. Birch, Wolfgang Baehr, David M. Hunt, David S. Williams, Kang Zhang

J Clin Invest. 2008 Aug 1; 118(8): 2908–2916. Published online 2008 Jul 24. doi: 10.1172/JCI35891