PTHB1-Gen
Das BBS9-Gen ist für das autosomal rezessive Bardet-Biedl-Syndroms 9 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
|
2. |
Adams AE et al. (1999) Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.
|
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.
|
4. |
NCBI article
NCBI 27241
|
5. |
OMIM.ORG article
Omim 607968
|
6. |
Orphanet article
Orphanet ID 118994
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Update: 14. August 2020