Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman, Atteeq U
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. [electronic resource] - American journal of human genetics Jan 2014 - 144-52 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2013.12.004 doi
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
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. [electronic resource] - American journal of human genetics Jan 2014 - 144-52 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2013.12.004 doi
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