Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. [electronic resource]
Producer: 20080415Description: 101-105 p. digitalISSN:- 1434-5161
- Chromosome Mapping
- Chromosomes, Human, Pair 2 -- genetics
- Consanguinity
- DNA Mutational Analysis
- Female
- Genes, Recessive -- genetics
- Genetic Linkage
- Genotype
- Hearing Loss -- genetics
- Humans
- Lod Score
- MARVEL Domain Containing 2 Protein
- Male
- Membrane Proteins -- genetics
- Mutation -- genetics
- Pakistan
- Pedigree
- Polymerase Chain Reaction
- RNA Splice Sites -- genetics
- Tight Junctions
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Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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