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Details on Person A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness
| Class:Id | LiteratureReference:3223208 |
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| _displayName | A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness |
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| _timestamp | 2013-03-25 16:41:49 |
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| author | [Person:3223211] Riazuddin, S Amer
[Person:3223233] Shahzadi, Amber
[Person:3223207] Zeitz, Christina
[Person:3223223] Ahmed, Zubair M
[Person:3223230] Ayyagari, Radha
[Person:3223217] Chavali, Venkata R M
[Person:3223213] Ponferrada, Virgilio G
[Person:3223209] Audo, Isabelle
[Person:3223218] Michiels, Christelle
[Person:3223229] Lancelot, Marie-Elise
[Person:3223222] Nasir, Idrees A
[Person:3223234] Zafar, Ahmad U
[Person:3223215] Khan, Shaheen N
[Person:3223210] Husnain, Tayyab
[Person:3223226] Jiao, Xiaodong
[Person:3223224] MacDonald, Ian M
[Person:3223216] Riazuddin, Sheikh
[Person:3223227] Sieving, Paul A
[Person:3223225] Katsanis, Nicholas
[Person:3223214] Hejtmancik, J Fielding |
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| created | [InstanceEdit:3223221] Jassal, Bijay, 2013-03-25 |
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| journal | Am. J. Hum. Genet. |
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| modified | [InstanceEdit:3223246] Jassal, B, 2013-03-25 |
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| pages | 523-31 |
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| pubMedIdentifier | 20850105 |
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| title | A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness |
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| volume | 87 |
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| year | 2010 |
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| (literatureReference) | [Reaction:2514891] SLC24A1 exchanges 4Na+ for Ca2+, K+ [Homo sapiens]
[Pathway:5619077] Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) [Homo sapiens]
[FailedReaction:5625841] Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ [Homo sapiens] |
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