PMC Links for Nucleotide (Select 1677538776) - PMC - NCBI

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Items: 3

Select item 57102081.

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Cristy A. Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W. Anderson, Ryan Geraets, Camille Parker, David A. Pearce, Michel Michaelides, Robert E. MacLaren, Anthony G. Robson, Graham E. Holder, Elise Heon, F. Lucy Raymond, Anthony T. Moore, Andrew R. Webster, Mark E. Pennesi

JAMA Ophthalmol. 2017 Jul; 135(7): 749–760. Prepublished online 2017 May 25. Published online 2017 Jul 13. doi: 10.1001/jamaophthalmol.2017.1401

PMCID:: PMC5710208

Select item 18011542.

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

P E Taschner, N de Vos, A D Thompson, D F Callen, N Doggett, S E Mole, T P Dooley, P G Barth, M H Breuning

Am J Hum Genet. 1995 Mar; 56(3): 663–668.

PMCID:: PMC1801154

Article PDF–1.2M

Select item 10508193.

Rapid diagnostic test for the major mutation underlying Batten disease.

I Järvelä, H M Mitchison, P B Munroe, A M O'Rawe, S E Mole, A C Syvänen

J Med Genet. 1996 Dec; 33(12): 1041–1042. doi: 10.1136/jmg.33.12.1041

PMCID:: PMC1050819

Article PDF–392K

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