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LONG QT SYNDROME 2/5, DIGENIC (disorder)

Known as: LONG QT SYNDROME 2/5, DIGENIC, LQT2/5, DIGENIC 
 
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Peripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential… Expand
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Highly Cited
2001
Highly Cited
2001
Retinitis pigmentosa (RP) is a group of inherited blinding diseases caused by mutations in multiple genes including RDS. RDS… Expand
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Review
2001
Review
2001
Retinitis pigmentosa (RP) is a heterogeneous group of retinal dystrophies characterized by photoreceptor cell degeneration. RP… Expand
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2000
2000
Nearly 40 disease-linked mutations have been reported for peripherin/rds to date; heterologous expression in tissue culture cells… Expand
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Highly Cited
1997
Highly Cited
1997
PURPOSE To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1… Expand
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Highly Cited
1996
Highly Cited
1996
The RDS gene codes for the protein peripherin‐RDS, which is an integral membrane glycoprotein found in the outer segment of both… Expand
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Highly Cited
1994
Highly Cited
1994
In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved… Expand
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