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Alstrom syndrome 1
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| Identifiers | |
| Symbol | ALMS1 |
| Entrez | 7840 |
| HUGO | 428 |
| OMIM | 606844 |
| RefSeq | NM_015120 |
| UniProt | Q8TCU4 |
| Other data | |
| Locus | Chr. 2 p13.1 |
The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated ALMS1 as the single gene responsible for Alström syndrome.
Mutations in the ALMS1 gene have been found to be causative for Alström syndrome with a total of 81 disease-causing mutations. 1
References
- ^ Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN (2007). "Alstrom syndrome (OMIM 203800): a case report and literature review.". Orphanet Journal of Rare Diseases 2 (1): 49. doi:. PMID 18154657, http://www.ojrd.com/content/2/1/49.
External links
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