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Transcobalamin II Deficiency in Four Cases with Novel Mutations

OBJECTIVE: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Turk J Haematol
Prif Awduron: Ünal, Şule, Rupar, Tony, Yetgin, Sevgi, Yaralı, Neşe, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Galenos Publishing 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4805327/
https://ncbi.nlm.nih.gov/pubmed/25914105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/tjh.2014.0154
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