Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. [electronic resource]
Producer: 20160829Description: 772-81 p. digitalISSN:- 1537-6605
- Adolescent
- Alleles
- Amino Acid Sequence
- Brain Diseases -- diagnosis
- Child
- Child, Preschool
- Corpus Callosum -- pathology
- Female
- GTPase-Activating Proteins -- genetics
- Humans
- Magnetic Resonance Imaging
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Conformation
- Protein Serine-Threonine Kinases -- genetics
- Signal Transduction
- TOR Serine-Threonine Kinases -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.