PubMed · 2017 · 31 citations · 41 references
Open access
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersGenetic SyndromesStructural Chromosome AbnormalitiesExome SequencingExome Sequencing AnalysisFrameshift MutationsInherited Chromosomal DisordersMissense MutationsMolecular Basis Of InheritanceMutationWhole-exome Sequencing Analysis
PURPOSE: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS: on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. RESULTS: ) gene. CONCLUSIONS: in causing BBS.
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Primer3 on the WWW for General Users and for Biologist Programmers
Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations
Elizabeth Forsythe, Philip L. Beales · European Journal of Human Genetics · 2012 · 744 citations · Full text
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
Stephen J. Ansley, José L. Badano, Oliver E. Blacque et al. · Nature · 2003 · 690 citations