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., ...Daha Fazla

TURKISH JOURNAL OF HEMATOLOGY, cilt.32, sa.4, ss.317-322, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/tjh.2014.0154
  • Dergi Adı: TURKISH JOURNAL OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.317-322
  • Anahtar Kelimeler: Vitamin B12, Transcobalamin II, Novel mutation, Novel deletion, Vacuolization, INTRINSIC-FACTOR, COBALAMIN DEFICIENCY, MEGALOBLASTIC-ANEMIA, GENE, IDENTIFICATION, CHILDREN
  • Gazi Üniversitesi Adresli: Evet

Özet

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.