Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal, Muhammad

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] - Molecular genetics & genomic medicine 08 2019 - e834 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.834 doi


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