Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MKKS gene is responsible for autosomal recessive Bardet-Biedl syndrome 6.
| 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 |
| 1. |
Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
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| 2. |
Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
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| 3. |
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
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| 4. |
Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.
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| 5. |
Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
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| 6. |
Stone DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
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| 7. |
Slavotinek AM et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
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| 8. |
Badano JL et al. (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
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| 9. |
NCBI article NCBI 8195
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| 10. |
OMIM.ORG article Omim 604896
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| 11. |
Orphanet article Orphanet ID 123245
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| 12. |
Wikipedia article Wikipedia EN (MKKS)
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