Sara J Bowne Selected Research

Peripherins

5/2015

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

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Sara J Bowne Research Topics

Disease

16	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2020 - 03/2002
3	Retinal Degeneration 01/2020 - 01/2006
3	Retinal Dystrophies 01/2017 - 05/2015
3	Retinal Diseases 10/2007 - 09/2006
2	Blindness (Hysterical Blindness) 11/2009 - 12/2008
1	Ciliopathies 01/2020
1	Fibrosis (Cirrhosis) 01/2020
1	Eye Diseases (Eye Disease) 09/2013
1	Retinitis Pigmentosa 2 02/2013
1	Vision Disorders (Hemeralopia) 11/2009
1	Giant Axonal Neuropathy 06/2009
1	Thiel-Behnke type Corneal dystrophy 10/2003

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 02/2016 - 09/2006
5	Retinaldehyde (Retinal)IBA 01/2020 - 09/2006
5	Oxidoreductases (Dehydrogenase)IBA 04/2008 - 03/2002
4	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 01/2010
4	Inosine Monophosphate (IMP)IBA 10/2007 - 03/2002
3	Rhodopsin (Visual Purple)IBA 01/2020 - 12/2008
1	KinesinsIBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	RNA Splicing FactorsIBA 01/2019
1	PeripherinsIBA 05/2015
1	HexokinaseIBA 09/2014
1	GTP Phosphohydrolases (GTPases)IBA 02/2013
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 11/2009
1	U5 Small Nuclear RibonucleoproteinIBA 11/2009
1	Serine (L-Serine)FDA Link 05/2008
1	Type I DNA Topoisomerases (Topoisomerase I)IBA 05/2008
1	Arginine (L-Arginine)FDA Link 05/2008
1	Inosine FDA Link 04/2008
1	Protein Isoforms (Isoforms)IBA 10/2007
1	Nucleic AcidsIBA 01/2006
1	EnzymesIBA 01/2006
1	Collagen Type XVIIIBA 10/2003