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BBS9 gene

Scientific background:

Summary: This is one of 12 genes involved in Bardet-Biedl syndrome.

Methodology:

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 10 working days
Effort 10 working days
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

Bardet-Biedl syndrome
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
CEP290
MKKS
MKS1
PTHB1
TRIM32
TTC8
WDPCP

Literature: 

Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Adams AE et al. (1999) Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.
Vernon EG et al. (2003) The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.