A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. [electronic resource]
Producer: 20060801Description: 835-9 p. digitalISSN:- 0031-3998
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Child, Preschool
- Congenital Disorders of Glycosylation -- diagnosis
- DNA Primers
- Female
- Glycosylation
- Humans
- Introns
- Male
- Mannosyltransferases -- chemistry
- Molecular Sequence Data
- Mutation
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Homology, Amino Acid
- Siblings
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.