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Details on Person Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
| Class:Id | LiteratureReference:3928676 |
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| _displayName | Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism |
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| _timestamp | 2013-07-23 09:03:02 |
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| author | [Person:3149534] Coelho, David
[Person:3149502] Kim, Jaeseung C
[Person:3000245] Miousse, Isabelle R
[Person:3149540] Fung, Stephen
[Person:3928675] du Moulin, Marcel
[Person:3000298] Buers, Insa
[Person:70763] Suormala, T
[Person:3245897] Burda, Patricie
[Person:3928674] Frapolli, Michele
[Person:3000281] Stucki, Martin
[Person:1979982] Nürnberg, P
[Person:3636857] Thiele, Holger
[Person:3000233] Robenek, Horst
[Person:3000231] Höhne, Wolfgang
[Person:3928671] Longo, Nicola
[Person:3928679] Pasquali, Marzia
[Person:3928673] Mengel, Eugen
[Person:517427] Watkins, D
[Person:450994] Shoubridge, EA
[Person:2458336] Majewski, Jacek
[Person:71003] Rosenblatt, DS
[Person:3000255] Fowler, Brian
[Person:199755] Rutsch, F
[Person:70762] Baumgartner, MR |
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| created | [InstanceEdit:3928677] Jassal, B, 2013-07-23 |
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| journal | Nat. Genet. |
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| pages | 1152-5 |
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| pubMedIdentifier | 22922874 |
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| title | Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism |
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| volume | 44 |
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| year | 2012 |
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| (literatureReference) | [Reaction:5223313] ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol (gut mucosal cells) [Homo sapiens]
[FailedReaction:5683325] Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol [Homo sapiens]
[Pathway:5683329] Defective ABCD4 causes MAHCJ [Homo sapiens]
[Reaction:9759206] ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol [Homo sapiens]
[CatalystActivityReference:9730741] ABC-type vitamin B12 transporter activity of ABCD4 mutant:LBRD1 complexes [lysosomal membrane] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism |
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