Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. [electronic resource]
Producer: 20140224Description: 144-52 p. digitalISSN:- 1537-6605
- Alleles
- Amino Acid Sequence
- Carrier Proteins -- genetics
- Chromosomes, Human, Pair 16 -- genetics
- Consanguinity
- Deafness -- genetics
- Epilepsy -- genetics
- Exome
- Exons
- Female
- GTPase-Activating Proteins
- Genes, Recessive
- Genetic Loci
- Genome-Wide Association Study
- Heterozygote
- Homozygote
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pakistan
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- RNA, Messenger -- genetics
- Sequence Analysis, DNA
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.