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Transcobalamin deficiency due to activation of an intra exonic cryptic splice site |
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| Authors: | Namour Fares Helfer Anne-Catherine Quadros Edward V Alberto Jean-Marc Bibi Ha M Orning Lars Rosenblatt David S Jean-Louis Guéant |
| Affiliation: | Laboratoire de Pathologie Cellulaire et Moléculaire en Nutrition, EMI-INSERM 0014, Faculté de Médecine de Nancy, Cedex, France. b.namour@chu-nancy.fr |
| Abstract: | |
| Keywords: | transcobalamin deficiency mutation splice site vitamin B12 anaemia |
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