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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

Known as: CSNB2A, CSNB, INCOMPLETE, X-LINKED, CSNB2 
 
National Institutes of Health

Papers overview

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2013
2013
OBJECTIVE To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary… Expand
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Highly Cited
2009
Highly Cited
2009
PURPOSE The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod… Expand
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Highly Cited
2006
Highly Cited
2006
Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from… Expand
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2006
2006
BACKGROUND X linked cone-rod dystrophy (CORDX) is a recessive retinal disease characterised by progressive dysfunction of… Expand
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Highly Cited
2005
Highly Cited
2005
The genetic locus for incomplete congenital stationary night blindness (CSNB2) has been identified as the CACNA1f gene, encoding… Expand
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2005
2005
PURPOSE To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T… Expand
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2001
2001
PURPOSE The CACNA1F gene encodes a voltage-gated calcium channel alpha1 subunit, alpha1F, which is expressed in the human retina… Expand
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Highly Cited
1998
Highly Cited
1998
The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23… Expand
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Highly Cited
1998
Highly Cited
1998
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night… Expand
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Highly Cited
1998
Highly Cited
1998
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night… Expand
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Is this relevant?