Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. [electronic resource]
Producer: 20200629Description: e834 p. digitalISSN:- 2324-9269
- Adolescent
- Bardet-Biedl Syndrome -- diagnosis
- Base Sequence -- genetics
- Child
- Chromosome Mapping
- Consanguinity
- Cytoskeletal Proteins -- genetics
- DNA Mutational Analysis
- Exons -- genetics
- Female
- Founder Effect
- Frameshift Mutation
- Genetic Testing
- Homozygote
- Humans
- Male
- Pakistan
- Pedigree
- Polymorphism, Single Nucleotide
- Sequence Deletion
- Exome Sequencing
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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