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Journal of Interferon and Cytokine Research, ISSN 1079-9907, 05/2017, Volume 37, Issue 5, pp. 214 - 219
Journal Article
Experimental & molecular medicine, ISSN 1226-3613, 10/2018, Volume 50, Issue 10, pp. 139 - 12
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Nature Genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 234 - 239
Vitamin B(12) (cobalamin) is essential in animals for metabolism of branched chain amino acids and odd chain fatty acids, and for remethylation of homocysteine... 
Vitamin B 12 Deficiency - etiology | Transcobalamins - genetics | Humans | Male | Methylmalonic Acid - metabolism | Proteins - isolation & purification | Tissue Distribution | Membrane Transport Proteins - deficiency | Membrane Transport Proteins - genetics | Transcobalamins - isolation & purification | Female | Membrane Transport Proteins - metabolism | Vitamin B 12 Deficiency - metabolism | Child | Methylmalonic Acid - urine | Chromosome Deletion | Lysosome-Associated Membrane Glycoproteins - metabolism | Nucleocytoplasmic Transport Proteins - physiology | Chromosome Mapping | Chromosomes, Human, Pair 6 | Nucleocytoplasmic Transport Proteins - genetics | Polymorphism, Genetic | Proteins - genetics | Nucleocytoplasmic Transport Proteins - metabolism | Proteins - metabolism | Transcobalamins - metabolism | Vitamin B 12 Deficiency - genetics | Hyperhomocysteinemia - genetics | HeLa Cells | Hyperhomocysteinemia - complications | Vitamin B 12 - metabolism | Medical research | Heart surgery | Genes | Vitamin B | Genetics | Medical screening | Chromosomes | Nucleocytoplasmic Transport Proteins | Biochemistry, Molecular Biology | Vitamin B 12 Deficiency | Proteins | Life Sciences | Membrane Transport Proteins | Transcobalamins | Vitamin B 12 | Hyperhomocysteinemia | Methylmalonic Acid | Lysosome-Associated Membrane Glycoproteins | Hela Cells
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Cytokine and Growth Factor Reviews, ISSN 1359-6101, 2016, Volume 29, pp. 101 - 107
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2006, Volume 103, Issue 27, pp. 10385 - 10390
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Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 08/2016, Volume 20, Issue 8, pp. 1523 - 1533
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Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1190 - 1201
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The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 275 - 282
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Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S117 - S117
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 08/2016, Volume 20, Issue 8, pp. 1523 - 1533
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Clinical genetics, ISSN 0009-9163, 09/2019
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory... 
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