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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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Detalhes bibliográficos
Publicado no:Turk J Haematol
Main Authors: Ünal, Şule, Rupar, Tony, Yetgin, Sevgi, Yaralı, Neşe, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2015
Assuntos:
Acesso em linha: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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