Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. [electronic resource]
Producer: 20090615Description: 183-90 p. digitalISSN:- 1364-6753
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Chromatography, High Pressure Liquid
- DNA -- blood
- DNA Mutational Analysis
- Exons
- Female
- Genes, X-Linked
- Germ-Line Mutation
- Humans
- Male
- X-Linked Intellectual Disability -- blood
- Molecular Sequence Data
- Mosaicism
- Nerve Tissue Proteins -- blood
- Nucleic Acid Denaturation
- Pedigree
- Plasma Membrane Neurotransmitter Transport Proteins -- blood
- Sequence Deletion
- Sequence Homology, Amino Acid
- Transfection
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.