Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

PTHB1 gene

The BBS9 gene is responsible for autosomal recessive Bardet-Biedl syndrome 9.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 09
BBS9

References:

1.

Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

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2.

Adams AE et al. (1999) Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.

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3.

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.

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4.

NCBI article

NCBI 27241 [^]
5.

OMIM.ORG article

Omim 607968 [^]
6.

Orphanet article

Orphanet ID 118994 [^]
7.

Wikipedia article

Wikipedia EN (BBS9) [^]
Update: April 29, 2019