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Details on Person Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
| Class:Id | LiteratureReference:5638214 |
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| _displayName | Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin |
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| _timestamp | 2014-11-13 15:45:40 |
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| author | [Person:5638193] Huppke, Peter
[Person:5638268] Brendel, Cornelia
[Person:5638251] Kalscheuer, Vera
[Person:5638278] Korenke, Georg Christoph
[Person:5638266] Marquardt, Iris
[Person:5638234] Freisinger, Peter
[Person:5432498] Christodoulou, John
[Person:5638233] Hillebrand, Merle
[Person:5638182] Pitelet, Gaele
[Person:5638292] Wilson, Callum
[Person:5638204] Gruber-Sedlmayr, Ursula
[Person:4420028] Ullmann, Reinhard
[Person:5638274] Haas, Stefan
[Person:380184] Elpeleg, O
[Person:2453871] Nürnberg, Gudrun
[Person:1979982] Nürnberg, P
[Person:5638254] Dad, Shzeena
[Person:5638178] Møller, Lisbeth Birk
[Person:5638298] Kaler, Stephen G
[Person:5638267] Gärtner, Jutta |
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| created | [InstanceEdit:5638236] Jassal, Bijay, 2014-11-13 |
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| journal | Am. J. Hum. Genet. |
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| pages | 61-8 |
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| pubMedIdentifier | 22243965 |
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| title | Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin |
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| volume | 90 |
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| year | 2012 |
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| (literatureReference) | [Pathway:5619061] Defective SLC33A1 causes spastic paraplegia 42 (SPG42) [Homo sapiens]
[FailedReaction:5649742] Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen [Homo sapiens] |
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