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- W2021728960 abstract "Transcobalamin II deficiency is a rare, probably autosomal recessive, inborn error of protein metabolism [Hakami et al., 1971]. Several authors have described the morphological characteristics of bone marrow aspirates from patients with this disorder; no reports have detailed the cytogenetic findings [Hitzig et al., 1974; Hakami et al., 1971; Niebrugge et al., 1982]. We report the cytogenetic findings of the bone marrow aspirates from an infant with transcobalamin II deficiency and identity fragile site expression in the hematopoietic cells in this patient. © 1993 Wiley-Liss, Inc." @default.
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- W2021728960 date "1993-07-01" @default.
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- W2021728960 title "Cytogenetic findings of a child with transcobalamin II deficiency" @default.
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- W2021728960 doi "https://doi.org/10.1002/ajmg.1320460602" @default.
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