BBS8-Gen
Das TTC8-Gen ist für das autosomal rezessive Bardet-Biedl-Syndroms 8 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
|
2. |
Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
|
3. |
Kubo A et al. (1999) Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis.
|
4. |
NCBI article
NCBI 123016
|
5. |
OMIM.ORG article
Omim 608132
|
6. |
Orphanet article
Orphanet ID 120323
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Update: 14. August 2020