PMC Links for Protein (Select 94681046) - PMC

Select item 59490751.

Identification of a Mutation in CNNM4 by Whole Exome Sequencing in an Amish Family and Functional Link between CNNM4 and IQCB1

Sisi Li, Quansheng Xi, Xiaoyu Zhang, Dong Yu, Lin Li, Zhenyang Jiang, Qiuyun Chen, Qing K. Wang, Elias I. Traboulsi

Mol Genet Genomics. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Mol Genet Genomics. 2018 Jun; 293(3): 699–710. Published online 2018 Jan 10. doi: 10.1007/s00438-018-1417-6

PMCID:: PMC5949075

Abstract Article PDF–1.2M

Select item 58735172.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Heon, Aparna Bhan, Omar A. Mahroo, Anthony Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides

Am J Ophthalmol. 2018 Apr; 188: 123–130. doi: 10.1016/j.ajo.2018.01.029

PMCID:: PMC5873517

Abstract Article PDF–2.1M

Select item 17357973.

An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta

M Michaelides, A Bloch-Zupan, G Holder, D Hunt, A Moore

J Med Genet. 2004 Jun; 41(6): 468–473. doi: 10.1136/jmg.2003.015792

PMCID:: PMC1735797

Summary PDF–207K

Select item 10977574.

Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis

Dehuang Guo, Jennifer Ling, Mong-Heng Wang, Jin-Xiong She, Jianguo Gu, Cong-Yi Wang

Mol Pain. 2005; 1: 15. Published online 2005 Apr 19. doi: 10.1186/1744-8069-1-15

PMCID:: PMC1097757

Abstract Article PDF–600K

Select item 10515765.

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.

I K Jalili, N J Smith

J Med Genet. 1988 Nov; 25(11): 738–740. doi: 10.1136/jmg.25.11.738

PMCID:: PMC1051576

Summary Page Browse PDF–502K

Select item 11348666.

Manganese toxicity and Saccharomyces cerevisiae Mam3p, a member of the ACDP (ancient conserved domain protein) family

Mei Yang, Laran T. Jensen, Allison J. Gardner, Valeria C. Culotta

Biochem J. 2005 Mar 15; 386(Pt 3): 479–487. Prepublished online 2004 Oct 21. Published online 2005 Mar 8. doi: 10.1042/BJ20041582

PMCID:: PMC1134866

Abstract Article PDF–797K

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