BBS11 gene
The TRIM32 gene is responsible for autosomal recessive Bardet-Biedl syndrome 11.
Genetests:
Related Diseases:
References:
1. |
Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
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2. |
Müller-Felber W et al. (1999) Phenotypic variability in two brothers with sarcotubular myopathy.
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3. |
OMIM.ORG article
Omim 602290
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4. |
Orphanet article
Orphanet ID 120273
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5. |
NCBI article
NCBI 22954
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6. |
Wikipedia article
Wikipedia EN (TRIM32)
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Update: Aug. 14, 2020