Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. [electronic resource]
Producer: 20040123Description: 915-20 p. digitalISSN:- 0007-1048
- Adult
- Anemia, Megaloblastic -- blood
- Animals
- COS Cells -- metabolism
- Child
- Electrophoresis, Polyacrylamide Gel
- Female
- Genotype
- Humans
- Male
- Parents
- Point Mutation
- RNA Splice Sites
- Reverse Transcriptase Polymerase Chain Reaction
- Siblings
- Transcobalamins -- analysis
- Transfection
- Vitamin B 12 -- metabolism
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Publication Type: Case Reports; Journal Article
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