Transcobalamin II Deficiency in Four Cases with Novel Mutations


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ÜNAL S., Rupar T., Yetgin S., Yarali N., DURSUN A., Gursel T., ...More

TURKISH JOURNAL OF HEMATOLOGY, vol.32, no.4, pp.317-322, 2015 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.4274/tjh.2014.0154
  • Journal Name: TURKISH JOURNAL OF HEMATOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.317-322
  • Keywords: Vitamin B12, Transcobalamin II, Novel mutation, Novel deletion, Vacuolization, INTRINSIC-FACTOR, COBALAMIN DEFICIENCY, MEGALOBLASTIC-ANEMIA, GENE, IDENTIFICATION, CHILDREN

Abstract

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 homocysteine and methylmalonic acid levels.