Article
Nonsense mutations in human transcobalamin II deficiency.
Biochemical and biophysical research communications - 15 Nov 1994
Li N, Rosenblatt D S, Seetharam B
Abstract excerpt
Reverse transcription-polymerase chain reaction has been used to amplify, clone and sequence transcobalamin II (TC II) cDNA from fibroblasts of three unrelated TC II deficient patients who had undetectable TC II protein and mRNA in their fibroblasts (Li et al., Biochem. J, 301, 585-590, 1994). On...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child
- Consanguinity
- DNA Primers
- Female
- Fibroblasts
- Humans
- Male
- Molecular Sequence Data
- Oligonucleotide Probes
- Polymerase Chain Reaction
- RNA, Messenger
- Restriction Mapping
- Sequence Deletion
- Skin
- Transcobalamins